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Relevance to Autism

Rare mutations in the PCDH19 gene have been identified with autism and schizophrenia (Piton et al., 2011) as well as with epilepsy and mental retardation limited to females (EFMR) and epilepsy alone (several studies for each disease).

Molecular Function

A calcium-dependent cell-adhesion protein that is primarily expressed in the brain

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
Mosaicism and incomplete penetrance of PCDH19 mutations.
Early infantile epileptic encephalopathy-9 (EIEE9)
ASD
Support
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
Epilepsy
ASD, ID
Support
Perturbation of Cortical Excitability in a Conditional Model of PCDH19 Disorder
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ASD, ID, epilepsy/seizures
Support
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
Epilepsy/seizures
ADHD, OCD, ODD
Support
Epilepsy/seizures
ASD, SCZ, DD, ID
Support
A complete Protocadherin-19 ectodomain model for evaluating epilepsy-causing mutations and potential protein interaction sites
Epilepsy/seizures
Support
PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.
Early infantile epileptic encephalopathy-9 (EIEE9)
Support
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
DD, ID
ASD, ADHD
Support
The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes
Support
A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome
Early infantile epileptic encephalopathy-9 (EIEE9)
Autistic features
Support
PCDH19-related epilepsy in two mosaic male patients.
Epilepsy/seizures
Support
Modifying PCDH19 levels affects cortical interneuron migration
Support
Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis
Epilepsy/seizures
Support
Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.
Early infantile epileptic encephalopathy-9 (EIEE9)
Support
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Epilepsy/seizures
Support
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.
ASD, epilepsy/seizures
Support
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
DD, ID, epilepsy/seizures
Support
Integrating de novo and inherited variants in 42
ASD
Support
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study
DD, epilepsy/seizures
Support
PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Cluster...
Support
NA
Support
A rat model of a focal mosaic expression of PCDH19 replicates human brain developmental abnormalities and behaviours
ASD, epilepsy/seizures
Support
Multiplane Calcium Imaging Reveals Disrupted Development of Network Topology in Zebrafish pcdh19 Mutants.
Support
PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.
Epilepsy
ID, ASD
Support
Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations
Epilepsy/seizures
Support
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants
ID, epilepsy/seizures
ASD
Support
Male patients affected by mosaic PCDH19 mutations: five new cases.
Epilepsy/seizures
ID, ASD
Support
DD, epilepsy/seizures
Support
Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish
Epilepsy/seizures
Support
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Epilepsy/seizures
DD
Support
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Epilepsy
ID, ASD, DD
Support
Behavioral and neuropsychological profile of a male patient with mosaic PCDH19 mutation
ASD, DD, ID, epilepsy/seizures
Support
The Epilepsy-Related Protein PCDH19 Regulates Tonic Inhibition, GABA A R Kinetics, and the Intrinsic Excitability of Hippocampal Neurons
Support
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Epilepsy/seizures
Support
Developmental and epileptic encephalopathy 9
Support
Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies
DD, epilepsy/seizures
Support
Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy.
Early infantile epileptic encephalopathy-9 (EIEE9)
SCZ
Support
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.
Epilepsy
ID, ASD
Support
Epilepsy surgery in PCDH 19 related developmental and epileptic encephalopathy: A case report
ASD, DD, epilepsy/seizures
Support
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression
ASD
Developmental regression, epilepsy/seizures
Support
The Clinical Spectrum of Female Epilepsy Patients with PCDH19 Mutations in a Chinese Population.
Epilepsy/seizures
ID, autistic features
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Highly Cited
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Epilepsy/seizures, ID
Delayed or absent speech, autistic features
Highly Cited
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Early infantile epileptic encephalopathy-9 (EIEE9)
ID, epilepsy
Recent Recommendation
Protocadherin-19 is essential for early steps in brain morphogenesis.
Recent Recommendation
Cognitive development in females with PCDH19 gene-related epilepsy.
Epilepsy/seizures, ID
Autistic features
Recent Recommendation
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
Epilepsy
ID, ASD
Recent Recommendation
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
Early infantile epileptic encephalopathy-9 (EIEE9)
ASD
Recent Recommendation
A novel PCDH19 mutation inherited from an unaffected mother.
Epilepsy
MR
Recent Recommendation
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and ...
Early infantile epileptic encephalopathy-9 (EIEE9)
Recent Recommendation
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
Early infantile epileptic encephalopathy-9 (EIEE9)
ID, epilepsy
Recent Recommendation
PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
ID, epilepsy/seizures
ASD or autistic features
Recent Recommendation
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
Epilepsy
Recent Recommendation
The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological mat...
Recent Recommendation
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Epilepsy
Recent Recommendation
Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ER).

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN190R001 
 missense_variant 
 c.1322T>A 
 p.Val441Glu 
 Familial 
 Paternal 
 Multi-generational 
 GEN190R002 
 stop_gained 
 c.253C>T 
 p.Gln85Ter 
 Familial 
 Paternal 
 Multi-generational 
 GEN190R003 
 stop_gained 
 c.2012C>G 
 p.Ser671Ter 
 Familial 
 Paternal 
 Multi-generational 
 GEN190R004 
 frameshift_variant 
 c.2030dup 
 p.Leu677PhefsTer43 
 Familial 
 Maternal and paternal 
 Multi-generational 
 GEN190R005 
 frameshift_variant 
 c.359del 
 p.Lys120ArgfsTer3 
 Familial 
 Maternal and paternal 
 Multiplex 
 GEN190R006 
 frameshift_variant 
 c.1094dup 
 p.Tyr366LeufsTer10 
 Familial 
 Maternal and paternal 
 Multi-generational 
 GEN190R007 
 missense_variant 
 c.1671C>G 
 p.Asn557Lys 
 Familial 
 Paternal 
 Multiplex 
 GEN190R008 
 missense_variant 
 c.826T>C 
 p.Ser276Pro 
 De novo 
  
  
 GEN190R009 
 synonymous_variant 
 c.6G>A 
 p.Glu2= 
  
  
  
 GEN190R010 
 synonymous_variant 
 c.402C>A 
 p.Ile134= 
  
  
  
 GEN190R011 
 synonymous_variant 
 c.655C>T 
 p.Leu219= 
  
  
  
 GEN190R012 
 synonymous_variant 
 c.1137C>T 
 p.Gly379= 
  
  
  
 GEN190R013 
 synonymous_variant 
 c.1627C>T 
 p.Leu543= 
  
  
  
 GEN190R014 
 synonymous_variant 
 c.1683G>A 
 p.Pro561= 
  
  
  
 GEN190R015 
 missense_variant 
 c.2873G>A 
 p.Arg958Gln 
  
  
  
 GEN190R016 
 frameshift_variant 
  
 p.Glu900ArgfsTer8 
 De novo 
  
  
 GEN190R017 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 De novo 
  
  
 GEN190R018 
 frameshift_variant 
  
 p.Ile508His 
  
  
  
 GEN190R019 
 missense_variant 
 A608CT617 
 His203Pro, Phe206Cys 
 De novo 
  
  
 GEN190R020 
 frameshift_variant 
  
 p.Asp968Glu 
 De novo 
  
  
 GEN190R021 
 splice_site_variant 
 A>G 
  
 De novo 
  
  
 GEN190R022 
 missense_variant 
 c.1129G>C 
 p.Asp377His 
 De novo 
  
  
 GEN190R023 
 missense_variant 
 c.1211C>T 
 p.Thr404Ile 
 De novo 
  
  
 GEN190R024 
 stop_gained 
 c.83C>A 
 p.Ser28Ter 
 De novo 
  
  
 GEN190R025 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 Familial 
 Maternal 
  
 GEN190R026 
 stop_gained 
 c.1192G>T 
 p.Glu398Ter 
 Familial 
 Paternal 
  
 GEN190R027 
 missense_variant 
 c.1240G>C 
 p.Glu414Gln 
 Familial 
 Paternal 
  
 GEN190R028 
 splice_site_variant 
 G>A 
 p.? 
 De novo 
  
  
 GEN190R029 
 frameshift_variant 
 c.78del 
 p.Lys26AsnfsTer4 
 De novo 
  
  
 GEN190R030 
 stop_gained 
 c.729C>A 
 p.Tyr243Ter 
 De novo 
  
  
 GEN190R031 
 frameshift_variant 
 delTTTT 
  
 De novo 
  
  
 GEN190R032 
 missense_variant 
 C>G 
 p.His146Gln 
 Familial 
 Maternal 
  
 GEN190R033 
 frameshift_variant 
 c.2564dup 
 p.Asn855LysfsTer6 
 Familial 
 Maternal 
  
 GEN190R034 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN190R035 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 Unknown 
  
  
 GEN190R036 
 missense_variant 
 c.1129G>A 
 p.Asp377Asn 
 De novo 
  
  
 GEN190R037 
 stop_gained 
 c.83C>A 
 p.Ser28Ter 
 De novo 
  
  
 GEN190R038 
 inframe_deletion 
 c.1466_1468del 
 p.Ser489del 
 De novo 
  
  
 GEN190R039 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 De novo 
  
  
 GEN190R040 
 frameshift_variant 
 c.1091dupC 
 p.Tyr366LeufsTer10 
 De novo 
  
  
 GEN190R041 
 frameshift_variant 
 c.2762dup 
 p.Asp921GlufsTer18 
 De novo 
  
  
 GEN190R042 
 missense_variant 
 c.695A>G 
 p.Asn232Ser 
 De novo 
  
  
 GEN190R043 
 stop_gained 
 c.1804C>T 
 p.Arg602Ter 
 De novo 
  
  
 GEN190R044 
 missense_variant 
 c.1211C>T 
 p.Thr404Ile 
 De novo 
  
  
 GEN190R045 
 frameshift_variant 
 c.1521dup 
 p.Ile508HisfsTer15 
 De novo 
  
  
 GEN190R046 
 frameshift_variant 
 c.1300_1301del 
 p.Gln434GlufsTer11 
 De novo 
  
 Multiplex 
 GEN190R047 
 frameshift_variant 
 c.2556dup 
 p.Glu853ArgfsTer8 
 De novo 
  
  
 GEN190R048 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 Familial 
 Maternal 
  
 GEN190R049 
 missense_variant 
 c.1129G>C 
 p.Asp377His 
 De novo 
  
  
 GEN190R050 
 splice_site_variant 
 c.2528T>C 
 p.Ile843Thr 
 De novo 
  
  
 GEN190R051 
 missense_variant 
 c.242T>G 
 p.Leu81Arg 
 De novo 
  
 Multiplex 
 GEN190R052 
 missense_variant 
 c.608A>C 
 p.His203Pro 
 De novo 
  
  
 GEN190R053 
 missense_variant 
 c.617T>G 
 p.Phe206Cys 
 De novo 
  
  
 GEN190R054 
 missense_variant 
 c.1786G>C 
 p.Asp596His 
 Familial 
 Paternal 
  
 GEN190R055 
 missense_variant 
 c.706C>T 
 p.Pro236Ser 
 De novo 
  
  
 GEN190R056 
 frameshift_variant 
 c.958dup 
 p.Asp320GlyfsTer22 
 De novo 
  
  
 GEN190R057 
 splice_site_variant 
 c.2617-1G>A 
  
 De novo 
  
  
 GEN190R058 
 frameshift_variant 
 c.2200dup 
 p.Ile734AsnfsTer3 
 De novo 
  
  
 GEN190R059 
 missense_variant 
 c.1700C>T 
 p.Pro567Leu 
 De novo 
  
  
 GEN190R060 
 missense_variant 
 c.1298T>C 
 p.Leu433Pro 
 De novo 
  
  
 GEN190R061 
 stop_gained 
 c.1183C>T 
 p.Arg395Ter 
 De novo 
  
  
 GEN190R062 
 missense_variant 
 c.790G>C 
 p.Asp264His 
 De novo 
  
  
 GEN190R063 
 frameshift_variant 
 c.152dup 
 p.Ala52ArgfsTer37 
 De novo 
  
  
 GEN190R064 
 missense_variant 
 c.1537G>C 
 p.Gly513Arg 
 De novo 
  
  
 GEN190R065 
 frameshift_variant 
 c.1863dup 
 p.Gly622TrpfsTer18 
 De novo 
  
  
 GEN190R066 
 missense_variant 
 c.823T>A 
 p.Tyr275Asn 
 Familial 
 Maternal 
  
 GEN190R067 
 stop_gained 
 c.2656C>T 
 p.Arg886Ter 
 De novo 
  
  
 GEN190R068 
 missense_variant 
 c.91G>A 
 p.Glu31Lys 
 De novo 
  
  
 GEN190R069 
 missense_variant 
 c.1123G>T 
 p.Asp375Tyr 
 De novo 
  
  
 GEN190R070 
 frameshift_variant 
 c.1091del 
 p.Pro364ArgfsTer4 
 De novo 
  
  
 GEN190R071 
 missense_variant 
 c.1031C>T 
 p.Pro344Leu 
 De novo 
  
  
 GEN190R072 
 stop_gained 
 c.718G>T 
 p.Glu240Ter 
 De novo 
  
  
 GEN190R073 
 frameshift_variant 
 c.1091dupC 
 p.Tyr366LeufsTer10 
 De novo 
  
  
 GEN190R074 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 Unknown 
  
  
 GEN190R075 
 missense_variant 
 c.1022A>G 
 p.Asp341Gly 
 De novo 
  
  
 GEN190R076 
 missense_variant 
 c.824A>C 
 p.Tyr275Ser 
 Familial 
 Maternal 
 Multi-generational 
 GEN190R077 
 stop_gained 
 c.416C>A 
 p.Ser139Ter 
 De novo 
  
  
 GEN190R078 
 missense_variant 
 c.1780G>C 
 p.Asp594His 
 De novo 
  
  
 GEN190R079 
 missense_variant 
 c.1802G>A 
 p.Gly601Asp 
 Unknown 
  
  
 GEN190R080 
 missense_variant 
 c.2359C>T 
 p.Arg787Cys 
 Unknown 
  
 Simplex 
 GEN190R081 
 missense_variant 
 c.593G>T 
 p.Arg198Leu 
 Unknown 
  
 Unknown 
 GEN190R082 
 frameshift_variant 
 c.357del 
 p.Lys120ArgfsTer3 
 Unknown 
  
 Unknown 
 GEN190R083 
 frameshift_variant 
 c.497dup 
 p.Tyr166Ter 
 Unknown 
  
 Unknown 
 GEN190R084 
 frameshift_variant 
 c.134_135del 
 p.Asp45GlyfsTer43 
 Familial 
 Paternal 
 Multiplex 
 GEN190R085 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 De novo 
  
 Unknown 
 GEN190R086 
 missense_variant 
 c.416C>T 
 p.Ser139Leu 
 Familial 
 Maternal 
 Unknown 
 GEN190R087 
 missense_variant 
 c.269A>T 
 p.Asp90Val 
 De novo 
  
 Unknown 
 GEN190R088 
 missense_variant 
 c.1787A>T 
 p.Asp596Val 
 Familial 
 Paternal 
 Unknown 
 GEN190R089 
 frameshift_variant 
 c.1091dup 
 p.Tyr366LeufsTer10 
 Unknown 
  
 Unknown 
 GEN190R090 
 stop_gained 
 c.2156T>G 
 p.Leu719Ter 
 Familial 
 Paternal 
 Simplex 
 GEN190R091 
 stop_gained 
 c.1048C>G 
 p.Ser349Ter 
 Familial 
 Paternal 
 Unknown 
 GEN190R092 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 Familial 
 Maternal 
 Unknown 
 GEN190R093 
 stop_gained 
 c.2656C>T 
 p.Arg886Ter 
 De novo 
  
 Unknown 
 GEN190R094 
 missense_variant 
 c.469G>A 
 p.Asp157Asn 
 Familial 
 Maternal 
 Unknown 
 GEN190R095 
 copy_number_loss 
  
  
 De novo 
  
 Unknown 
 GEN190R096 
 copy_number_loss 
  
  
 De novo 
  
 Unknown 
 GEN190R097 
 copy_number_loss 
  
  
 De novo 
  
 Unknown 
 GEN190R098 
 missense_variant 
 c.1681C>T 
 p.Pro561Ser 
 Unknown 
  
  
 GEN190R099 
 missense_variant 
 c.2873G>A 
 p.Arg958Gln 
 Familial 
 Paternal 
 Simplex 
 GEN190R100 
 stop_gained 
  
  
 De novo 
  
  
 GEN190R101 
 missense_variant 
 c.1178C>T 
 p.Pro393Leu 
 De novo 
  
  
 GEN190R102 
 frameshift_variant 
 c.1091dup 
 p.Tyr366LeufsTer10 
 De novo 
  
  
 GEN190R103 
 frameshift_variant 
 c.1091del 
 p.Pro364ArgfsTer4 
 Familial 
 Paternal 
 Multiplex 
 GEN190R104 
 missense_variant 
 c.370G>A 
 p.Asp124Asn 
 Familial 
 Paternal 
 Simplex 
 GEN190R105 
 missense_variant 
 c.488T>G 
 p.Val163Gly 
 De novo 
  
  
 GEN190R106 
 inframe_insertion 
 c.1345_1347dup 
 p.Asn449dup 
 De novo 
  
  
 GEN190R107 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 De novo 
  
  
 GEN190R108 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 Familial 
 Maternal 
 Multi-generational 
 GEN190R109 
 stop_gained 
 c.2012C>G 
 p.Ser671Ter 
 Familial 
  
 Multi-generational 
 GEN190R110 
 frameshift_variant 
 c.1017del 
 p.Asn340MetfsTer28 
 Familial 
 Maternal 
 Multi-generational 
 GEN190R111 
 missense_variant 
 c.790G>C 
 p.Asp264His 
 Familial 
 Paternal 
 Multiplex 
 GEN190R112 
 missense_variant 
 c.1184G>C 
 p.Arg395Pro 
 De novo 
  
  
 GEN190R113 
 frameshift_variant 
 c.1408_1417del 
 p.Ala470SerfsTer96 
 Familial 
 Paternal 
 Simplex 
 GEN190R114 
 stop_gained 
 c.1825G>T 
 p.Glu609Ter 
 Unknown 
  
  
 GEN190R115 
 stop_gained 
 c.1375C>T 
 p.Gln459Ter 
 De novo 
  
  
 GEN190R116 
 frameshift_variant 
 c.1091del 
 p.Pro364ArgfsTer4 
 Familial 
 Paternal 
 Multiplex 
 GEN190R117 
 missense_variant 
 c.370G>A 
 p.Asp124Asn 
 Familial 
 Paternal 
 Multiplex 
 GEN190R118 
 missense_variant 
 c.1240G>A 
 p.Glu414Lys 
 Familial 
 Maternal 
 Simplex 
 GEN190R119 
 frameshift_variant 
 c.1091dup 
 p.Tyr366LeufsTer10 
 De novo 
  
  
 GEN190R120 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 De novo 
  
  
 GEN190R121 
 missense_variant 
 c.695A>G 
 p.Asn232Ser 
 De novo 
  
  
 GEN190R122 
 frameshift_variant 
 c.1091dup 
 p.Tyr366LeufsTer10 
 De novo 
  
  
 GEN190R123 
 stop_gained 
 c.339C>A 
 p.Cys113Ter 
 Familial 
  
 Multi-generational 
 GEN190R124 
 missense_variant 
 c.471C>A 
 p.Asp157Glu 
 De novo 
  
  
 GEN190R125 
 missense_variant 
 c.964G>C 
 p.Gly322Arg 
 De novo 
  
  
 GEN190R126 
 missense_variant 
 c.1339A>C 
 p.Asn447His 
 Unknown 
  
  
 GEN190R127 
 missense_variant 
 c.1864G>C 
 p.Gly622Arg 
 De novo 
  
  
 GEN190R128 
 stop_gained 
 c.840C>G 
 p.Tyr280Ter 
 De novo 
  
  
 GEN190R129 
 stop_gained 
 c.462C>G 
 p.Tyr154Ter 
 De novo 
  
  
 GEN190R130 
 missense_variant 
 c.1682C>G 
 p.Pro561Arg 
 Unknown 
  
  
 GEN190R131 
 stop_gained 
 c.799G>T 
 p.Glu267Ter 
 De novo 
  
  
 GEN190R132 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN190R133 
 stop_gained 
 c.142G>T 
 p.Glu48Ter 
 Familial 
 Paternal 
 Multiplex 
 GEN190R134 
 stop_gained 
 c.352G>T 
 p.Glu118Ter 
 De novo 
  
 Multiplex 
 GEN190R135 
 stop_gained 
 c.859G>T 
 p.Glu287Ter 
 Familial 
 Paternal 
 Multi-generational 
 GEN190R136 
 stop_gained 
 c.859G>T 
 p.Glu287Ter 
 De novo 
  
 Simplex 
 GEN190R137 
 missense_variant 
 c.3319C>G 
 p.Arg1107Gly 
 Familial 
 Paternal 
 Simplex 
 GEN190R138 
 frameshift_variant 
 c.1036_1037insATCAA 
 p.Ile346AsnfsTer24 
 Familial 
  
 Multi-generational 
 GEN190R139 
 frameshift_variant 
 c.506del 
 p.Thr169SerfsTer43 
 De novo 
  
 Simplex 
 GEN190R140 
 missense_variant 
 c.361G>A 
 p.Asp121Asn 
 Familial 
 Maternal 
 Multiplex 
 GEN190R141 
 missense_variant 
 c.595G>C 
 p.Glu199Gln 
 Unknown 
 Not maternal 
 Simplex 
 GEN190R142 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 De novo 
  
 Simplex 
 GEN190R143 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 De novo 
  
 Simplex 
 GEN190R144 
 missense_variant 
 c.1628T>C 
 p.Leu543Pro 
 Familial 
 Paternal 
 Simplex 
 GEN190R145 
 stop_gained 
 c.918C>G 
 p.Tyr306Ter 
 De novo 
  
 Simplex 
 GEN190R146 
 missense_variant 
 c.1352C>T 
 p.Pro451Leu 
 De novo 
  
 Simplex 
 GEN190R147 
 stop_gained 
 c.605C>A 
 p.Ser202Ter 
 Unknown 
 Not maternal 
 Simplex 
 GEN190R148 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN190R149 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN190R150 
 copy_number_loss 
  
  
 Unknown 
  
  
 GEN190R151 
 frameshift_variant 
 c.1091dup 
 p.Tyr366LeufsTer10 
 De novo 
  
  
 GEN190R152 
 frameshift_variant 
 c.898_899del 
 p.Val300HisfsTer19 
 De novo 
  
  
 GEN190R153 
 frameshift_variant 
 c.805del 
 p.Thr269ProfsTer36 
 De novo 
  
  
 GEN190R154 
 frameshift_variant 
 c.2146dup 
 p.Arg716LysfsTer4 
 Unknown 
  
  
 GEN190R155 
 frameshift_variant 
 c.434dup 
 p.Thr146HisfsTer80 
 De novo 
  
  
 GEN190R156 
 frameshift_variant 
 c.1091dup 
 p.Tyr366LeufsTer10 
 Familial 
 Paternal 
  
 GEN190R157 
 frameshift_variant 
 c.1095_1101del 
 p.Tyr366SerfsTer201 
 De novo 
  
  
 GEN190R158 
 stop_gained 
 c.139C>T 
 p.Arg47Ter 
 De novo 
  
  
 GEN190R159 
 stop_gained 
 c.498C>G 
 p.Tyr166Ter 
 Familial 
 Maternal 
 Multi-generational 
 GEN190R160 
 stop_gained 
 c.2656C>T 
 p.Arg886Ter 
 Familial 
 Maternal 
  
 GEN190R161 
 stop_gained 
 c.2113C>T 
 p.Arg705Ter 
 De novo 
  
  
 GEN190R162 
 stop_gained 
 c.991A>T 
 p.Lys331Ter 
 Unknown 
  
 Multiplex 
 GEN190R163 
 stop_gained 
 c.619C>T 
 p.Arg207Ter 
 De novo 
  
  
 GEN190R164 
 stop_gained 
 c.825C>A 
 p.Tyr275Ter 
 Unknown 
  
  
 GEN190R165 
 missense_variant 
 c.695A>G 
 p.Asn232Ser 
 De novo 
  
  
 GEN190R166 
 missense_variant 
 c.1114C>T 
 p.Arg372Trp 
 De novo 
  
  
 GEN190R167 
 missense_variant 
 c.344T>A 
 p.Ile115Lys 
 De novo 
  
  
 GEN190R168 
 missense_variant 
 c.1441G>A 
 p.Asp481Asn 
 De novo 
  
  
 GEN190R169 
 missense_variant 
 c.1342G>A 
 p.Asp448Asn 
 Familial 
 Maternal 
 Multi-generational 
 GEN190R170 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 De novo 
  
  
 GEN190R171 
 missense_variant 
 c.1335C>A 
 p.Asp445Glu 
 Familial 
 Maternal 
  
 GEN190R172 
 missense_variant 
 c.1873A>G 
 p.Arg625Gly 
 Familial 
 Maternal 
 Multi-generational 
 GEN190R173 
 missense_variant 
 c.1004G>A 
 p.Ser335Asn 
 Familial 
 Paternal 
 Multi-generational 
 GEN190R174 
 missense_variant 
 c.625A>C 
 p.Thr209Pro 
 Familial 
 Paternal 
  
 GEN190R175 
 missense_variant 
 c.370G>T 
 p.Asp124Tyr 
 De novo 
  
  
 GEN190R176 
 missense_variant 
 c.593G>T 
 p.Arg198Leu 
 De novo 
  
  
 GEN190R177 
 missense_variant 
 c.463G>C 
 p.Asp155His 
 Familial 
 Paternal 
  
 GEN190R178 
 missense_variant 
 c.361G>C 
 p.Asp121His 
 De novo 
  
  
 GEN190R179 
 missense_variant 
 c.463G>A 
 p.Asp155Asn 
 Familial 
 Paternal 
  
 GEN190R180 
 missense_variant 
 c.1020T>G 
 p.Asn340Lys 
 Familial 
 Paternal 
  
 GEN190R181a 
 missense_variant 
 c.1372T>C 
 p.Tyr458His 
 De novo 
  
  
 GEN190R181b 
 missense_variant 
 c.1435G>A 
 p.Asp479Asn 
 De novo 
  
  
 GEN190R182 
 missense_variant 
 c.1748T>C 
 p.Ile583Thr 
 Familial 
 Paternal 
  
 GEN190R183 
 frameshift_variant 
 c.1508dup 
 p.Thr504HisfsTer19 
 De novo 
  
 Simplex 
 GEN190R184 
 missense_variant 
 c.1681C>T 
 p.Pro561Ser 
 De novo 
  
 Simplex 
 GEN190R185 
 stop_gained 
 c.918C>G 
 p.Tyr306Ter 
 Familial 
 Paternal 
 Multi-generational 
 GEN190R186 
 missense_variant 
 c.706C>T 
 p.Pro236Ser 
 Unknown 
 Not maternal 
  
 GEN190R187 
 frameshift_variant 
 c.1987del 
 p.Ser663ProfsTer13 
 Familial 
 Paternal 
 Multiplex 
 GEN190R188 
 missense_variant 
 c.1240G>A 
 p.Glu414Lys 
 Familial 
 Maternal 
  
 GEN190R189 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN190R190 
 missense_variant 
 c.317T>A 
 p.Met106Lys 
 De novo 
  
  
 GEN190R191 
 frameshift_variant 
 c.158dup 
 p.Asp54GlyfsTer35 
 De novo 
  
  
 GEN190R192 
 missense_variant 
 c.262G>T 
 p.Asp88Tyr 
 De novo 
  
  
 GEN190R193 
 frameshift_variant 
 c.497dup 
 p.Tyr166Ter 
 Familial 
  
 Multi-generational 
 GEN190R194 
 frameshift_variant 
 c.2341del 
 p.Ser781LeufsTer6 
 De novo 
  
  
 GEN190R195 
 missense_variant 
 c.471C>G 
 p.Asp157Glu 
 De novo 
  
  
 GEN190R196 
 stop_gained 
 c.2113C>T 
 p.Arg705Ter 
 Familial 
 Paternal 
  
 GEN190R197 
 frameshift_variant 
 c.134_135del 
 p.Asp45GlyfsTer43 
 Familial 
 Paternal 
  
 GEN190R198 
 frameshift_variant 
 c.64del 
 p.Leu22SerfsTer8 
 De novo 
  
  
 GEN190R199 
 frameshift_variant 
 c.183dup 
 p.Arg62SerfsTer27 
 De novo 
  
  
 GEN190R200 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 Familial 
 Maternal 
  
 GEN190R201 
 frameshift_variant 
 c.339dup 
 p.Val114ArgfsTer112 
 Familial 
  
 Multi-generational 
 GEN190R202a 
 missense_variant 
 c.1178C>T 
 p.Pro393Leu 
 Familial 
 Paternal 
  
 GEN190R202b 
 missense_variant 
 c.1191G>C 
 p.Gln397His 
 Familial 
 Paternal 
  
 GEN190R203 
 stop_gained 
 c.1133C>G 
 p.Ser378Ter 
 De novo 
  
  
 GEN190R204 
 missense_variant 
 c.1681C>T 
 p.Pro561Ser 
 De novo 
  
  
 GEN190R205 
 splice_site_variant 
 c.2851del 
 p.Thr951LeufsTer36 
 Familial 
 Maternal 
  
 GEN190R206 
 stop_gained 
 c.1804C>T 
 p.Arg602Ter 
 De novo 
  
  
 GEN190R207 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN190R208 
 frameshift_variant 
 c.1663del 
 p.Asp555ThrfsTer14 
 De novo 
  
  
 GEN190R209 
 missense_variant 
 c.798C>G 
 p.Asp266Glu 
 De novo 
  
  
 GEN190R210 
 frameshift_variant 
 c.2123_2124del 
 p.Lys708ArgfsTer11 
 Familial 
 Maternal 
  
 GEN190R211 
 missense_variant 
 c.2222C>T 
 p.Ser741Leu 
 Familial 
 Paternal 
  
 GEN190R212 
 missense_variant 
 c.812G>A 
 p.Gly271Asp 
 Familial 
  
 Extended multiplex 
 GEN190R213 
 missense_variant 
 c.2977G>A 
 p.Asp993Asn 
 Familial 
 Maternal 
 Unknown 
 GEN190R214 
 missense_variant 
 c.121A>G 
 p.Asn41Asp 
 Unknown 
  
 Unknown 
 GEN190R215 
 stop_gained 
 c.1183C>T 
 p.Arg395Ter 
 Unknown 
  
  
 GEN190R216 
 missense_variant 
 c.812G>A 
 p.Gly271Asp 
 Unknown 
  
  
 GEN190R217 
 missense_variant 
 c.419A>G 
 p.Glu140Gly 
 Unknown 
  
  
 GEN190R218 
 missense_variant 
 c.496T>A 
 p.Tyr166Asn 
 De novo 
  
 Simplex 
 GEN190R219 
 stop_gained 
 c.326C>G 
 p.Ser109Ter 
 De novo 
  
 Simplex 
 GEN190R220 
 missense_variant 
 c.263A>C 
 p.Asp88Ala 
 De novo 
  
 Simplex 
 GEN190R221 
 missense_variant 
 c.695A>G 
 p.Asn232Ser 
 Unknown 
  
  
 GEN190R222 
 missense_variant 
 c.369C>A 
 p.Asn123Lys 
 De novo 
  
  
 GEN190R223 
 frameshift_variant 
 c.2463dup 
 p.Pro822AlafsTer8 
 De novo 
  
  
 GEN190R224 
 frameshift_variant 
 c.1068_1071delinsCA 
 p.Glu357SerfsTer18 
 De novo 
  
 Simplex 
 GEN190R225a 
 missense_variant 
 c.1006G>A 
 p.Val336Met 
 Familial 
 Paternal 
 Simplex 
 GEN190R225b 
 missense_variant 
 c.1014C>A 
 p.Asp338Glu 
 Familial 
 Paternal 
 Simplex 
 GEN190R226 
 synonymous_variant 
 c.2808C>T 
 p.Asn936%3D 
 De novo 
  
 Simplex 
 GEN190R227 
 missense_variant 
 c.1966G>C 
 p.Ala656Pro 
 De novo 
  
 Simplex 
 GEN190R228 
 frameshift_variant 
 c.2490_2493del 
 p.Thr831SerfsTer2 
 De novo 
  
  
 GEN190R229 
 frameshift_variant 
 c.2133del 
 p.Thr712ProfsTer41 
 De novo 
  
  
 GEN190R230 
 missense_variant 
 c.549C>G 
 p.Asp183Glu 
 De novo 
  
  
 GEN190R231a 
 missense_variant 
 c.695A>G 
 p.Asn232Ser 
 Familial 
  
 Multi-generational 
 GEN190R231b 
 missense_variant 
 c.2760T>A 
 p.Asp920Glu 
 Familial 
  
 Multi-generational 
 GEN190R232 
 missense_variant 
 c.2360G>T 
 p.Arg787Leu 
 Unknown 
  
 Simplex 
 GEN190R233 
 missense_variant 
 c.3070G>A 
 p.Asp1024Asn 
 Familial 
 Maternal 
 Simplex 
 GEN190R234 
 missense_variant 
 c.1019A>G 
 p.Asn340Ser 
 De novo 
  
  
  et al.  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 21
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 8
 

Model Summary

Mutations in the PCDH19 gene have been identified as a cause of epilepsy-intellectual disability in females. Pcdh19 localized in layer Va in the somatosensory cortex in the postnatal brain.

References

Type
Title
Author, Year
Primary
Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice.

M_PCDH19_1_KO_HE

Model Type: Genetic
Model Genotype: Hemizygous
Mutation: Hemizygous knockout male mice where the entire first exon after the start codon of the Pcdh19 gene was replaced by a LacZ-neo selection cassette. The selection cassette was later removed using a Sox-2::Cre transgenic mouse.
Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_PCDH19_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Heteroygous knockout female mice where the entire first exon after the start codon of the Pcdh19 gene was replaced by a LacZ-neo selection cassette. The selection cassette was later removed using a Sox-2::Cre transgenic mouse.
Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_PCDH19_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Heteroygous knockout female mice where the entire first exon after the start codon of the Pcdh19 gene was replaced by a LacZ-neo selection cassette. The selection cassette was later removed using a Sox-2::Cre transgenic mouse.
Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_PCDH19_4_TG

Model Type: Genetic
Model Genotype: Other
Mutation: Mice with Pcdh19 overexpression in otherwise wild-type cortices. Pcdh19 was exogenously expressed in post-mitotic neurons of wild-type cortices by in utero electroporation of E12.5 brains. Mice were injected with a vector that encoded pNeuroD-Cre, which expresses Cre recombinase under the neuron-specific promotor NeuroD, and two conditional vectors that encode GFP and Pcdh19-FLAG in a Cre-dependent manner. The over-expression model was used to determine whether the mosaic distribution of Pcdh19 in heterozygous models was due to the homophilic binding property of protocadherins or X-linked inactivation. Control injected mice expressed only GFP.
Allele Type: Overexpression
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_PCDH19_1_KO_HE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Grip strength1
Decreased
Description: Mutants show decreased grip strength compared to controls.
Exp Paradigm: Behavioral testing was performed between 9:00 a.m. and 6:00 p.m.
 Grip strength test
 10 weeks
Vertical jumping or back flipping1
Decreased
Description: Mutants show reduced vertical activity compared to controls.
Exp Paradigm: Behavioral testing was performed between 9:00 a.m. and 6:00 p.m.
 Open field test
 11-12, 34 weeks
Stereotypy1
Increased
Description: Mutants show increase in stereotypic behavior compared to controls.
Exp Paradigm: Behavioral testing was performed between 9:00 a.m. and 6:00 p.m.
 Open field test
 34 weeks
Pain or nociception: thermal1
Decreased
Description: Mutants show decreased latency to respond to the hot plate compared to controls.
Exp Paradigm: Behavioral testing was performed between 9:00 a.m. and 6:00 p.m.
 Open field test
 11-12 weeks
Size/growth1
Decreased
Description: Mutants show decreased body weight compared to controls.
Exp Paradigm: NA
 Body weight measurement
 10 weeks
Depression1
Abnormal
Description: Mutants show abnormal mobility under stressful conditions, compared to controls. in the forced swim test, mutants show increased immobility compared to controls and in the tail suspension test, mutants show decreased immobility compared to controls.
Exp Paradigm: Behavioral testing was performed between 9:00 a.m. and 6:00 p.m.- tail suspension test
 Tail suspension test
 10 weeks
Depression1
Abnormal
Description: Mutants show abnormal mobility under stressful conditions, compared to controls. in the forced swim test, mutants show increased immobility compared to controls and in the tail suspension test, mutants show decreased immobility compared to controls.
Exp Paradigm: Behavioral testing was performed between 9:00 a.m. and 6:00 p.m.-forced swim test
 Forced swim test
 10 weeks
Targeted expression1
Decreased
Description: Pcdh19 hemizygous null male mice show no expression of the 150kda pcdh19 protein compared to controls. in wildtype controls there was no difference in pcdh19 protein expression between males and females at p7. pcdh19 hemizygous null male mice show lacz staining (from the lacz knocked into the pcdh19 gene locus) distributed over the cerebral cortex while there was no lacz signal in controls.
Exp Paradigm: Western blot
 Western blot
 E10.5, e14.5
Targeted expression1
Decreased
Description: Pcdh19 hemizygous null male mice show no expression of the 150kda pcdh19 protein compared to controls. in wildtype controls there was no difference in pcdh19 protein expression between males and females at p7. pcdh19 hemizygous null male mice show lacz staining (from the lacz knocked into the pcdh19 gene locus) distributed over the cerebral cortex while there was no lacz signal in controls.
Exp Paradigm: Histology: lacz staining
 Histology
 E10.5, e14.5
Coat color1
 No change
 General observations
 10 weeks
General characteristics1
 No change
 General observations
 10 weeks
Anxiety1
 No change
 Elevated plus maze test
 11-12, 34 weeks
Anxiety1
 No change
 Open field test
 11-12, 34 weeks
Anxiety1
 No change
 Light-dark exploration test
 11-12, 34 weeks
Cued or contextual fear conditioning1
 No change
 Fear conditioning test
 11-12 weeks
Cued or contextual fear conditioning: memory of context1
 No change
 Fear conditioning test
 11-12 weeks
Cued or contextual fear conditioning: memory of context: long term recall1
 No change
 Fear conditioning test
 17 weeks
Cued or contextual fear conditioning: memory of cue1
 No change
 Fear conditioning test
 11-12 weeks
Cued or contextual fear conditioning: memory of cue: long term recall1
 No change
 Fear conditioning test
 17 weeks
Spatial reference memory1
 No change
 Barnes maze test
 10 weeks
Spatial working memory1
 No change
 T-maze test
 10 weeks
General locomotor activity: ambulatory activity1
 No change
 Open field test
 11-12, 34 weeks
Grip strength1
 No change
 Wire hang test
 10 weeks
Motor coordination and balance1
 No change
 Accelerating rotarod test
 10 weeks
Spinal reflex1
 No change
 General observations
 10 weeks
Anatomical projections and connectivity1
 No change
 Immunohistochemistry
 3 weeks
Dendritic architecture: dendritic tree complexity1
 No change
 Immunohistochemistry
 3 weeks
Dendritic architecture: spine density1
 No change
 Immunohistochemistry
 3 weeks
Dendritic architecture: spine morphology1
 No change
 Immunohistochemistry
 3 weeks
Somatosensory cortical map architecture1
 No change
 Immunohistochemistry
 Not reported
Core body temperature1
 No change
 Body temperature measurement
 10 weeks
Stereotypy1
 No change
 Open field test
 11-12 weeks
Startle response: acoustic stimulus1
 No change
 Acoustic startle reflex test
 10 weeks
Social interaction1
 No change
 Reciprocal social interaction test
 10 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Neurophysiology, Physiological parameters, Seizure

M_PCDH19_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Grip strength1
Decreased
Description: Mutants show decrease in latency to fall in the hanging wire test compared to controls.
Exp Paradigm: Behavioral testing was performed between 9:00 a.m. and 6:00 p.m.
 Wire hang test
 10 weeks
Startle response: acoustic stimulus1
Increased
Description: Mutants show increase in acoustic startle reflex at 110 but not 120db, and no change in prepulse inhibition at 110 or 120 db, compared to controls.
Exp Paradigm: Behavioral testing was performed between 9:00 a.m. and 6:00 p.m.
 Acoustic startle reflex test
 10 weeks
Core body temperature1
Decreased
Description: Mutants show decrease in rectal temperature compared to controls.
Exp Paradigm: NA
 Body temperature measurement
 10 weeks
Anxiety1
Decreased
Description: Mutants show increase in the time spent in the center versus the periphery of the field in the open field test, compared to controls.
Exp Paradigm: Behavioral testing was performed between 9:00 a.m. and 6:00 p.m.- open field test
 Open field test
 34 weeks
Depression1
Decreased
Description: Mutants show abnormal mobility under stressful conditions, compared to controls. in the forced swim test and tail suspension test, mutants show decreased immobility compared to controls.
Exp Paradigm: Behavioral testing was performed between 9:00 a.m. and 6:00 p.m.-forced swim test
 Forced swim test
 10 weeks
Anxiety1
Decreased
Description: Mutants show increase in the time spent in the center versus the periphery of the field in the open field test, compared to controls.
Exp Paradigm: Behavioral testing was performed between 9:00 a.m. and 6:00 p.m.- elevated plus maze test
 Elevated plus maze test
 34 weeks
Depression1
Decreased
Description: Mutants show abnormal mobility under stressful conditions, compared to controls. in the forced swim test and tail suspension test, mutants show decreased immobility compared to controls.
Exp Paradigm: Behavioral testing was performed between 9:00 a.m. and 6:00 p.m.- tail suspension test
 Tail suspension test
 10 weeks
Anxiety1
Decreased
Description: Mutants show increase in the time spent in the center versus the periphery of the field in the open field test, compared to controls.
Exp Paradigm: Behavioral testing was performed between 9:00 a.m. and 6:00 p.m.-light-dark exploration test
 Light-dark exploration test
 34 weeks
Cued or contextual fear conditioning: memory of cue1
Decreased
Description: Mutants show lower fear response to the cue, one day after conditioning training, compared to controls.
Exp Paradigm: NA
 Fear conditioning test
 11-12 weeks
Cued or contextual fear conditioning: memory of context: long term recall1
Decreased
Description: Mutants show lower fear response to the context, 28 days after conditioning training, compared to controls.
Exp Paradigm: NA
 Fear conditioning test
 17 weeks
Cued or contextual fear conditioning: memory of context1
Decreased
Description: Mutants show lower fear response to the context, one day after conditioning training, compared to controls.
Exp Paradigm: NA
 Fear conditioning test
 11-12 weeks
Cued or contextual fear conditioning: memory of cue: long term recall1
Decreased
Description: Mutants show lower fear response to the cue, 28 days after conditioning training, compared to controls.
Exp Paradigm: NA
 Fear conditioning test
 17 weeks
Cued or contextual fear conditioning1
Decreased
Description: Mutants show lower fear response during the conditioning phase of the fear conditioning test, compared to controls.
Exp Paradigm: NA
 Fear conditioning test
 11-12 weeks
Targeted expression1
Decreased
Description: Pchd19 heterozygous mutant female shows decreased pcdh19 protein expression in the cerebral cortex lysates compared to controls. in wildtype controls there was no difference in pcdh19 protein expression between males and females at p7. pcdh19 heterozygous null female mice show lacz staining (from the lacz knocked into the pcdh19 gene locus) distributed in patches over the cerebral cortex including layer va of the somatosensory cortex, while there was no lacz signal in controls. lacz distribution is not symmetrical between the hemispheres in mutants.
Exp Paradigm: Western blot
 Western blot
 E10.5, e14.5, 1.2 months
Targeted expression1
Decreased
Description: Pchd19 heterozygous mutant female shows decreased pcdh19 protein expression in the cerebral cortex lysates compared to controls. in wildtype controls there was no difference in pcdh19 protein expression between males and females at p7. pcdh19 heterozygous null female mice show lacz staining (from the lacz knocked into the pcdh19 gene locus) distributed in patches over the cerebral cortex including layer va of the somatosensory cortex, while there was no lacz signal in controls. lacz distribution is not symmetrical between the hemispheres in mutants.
Exp Paradigm: Histology: lacz staining
 Histology
 E10.5, e14.5, 1.2 months
Coat color1
 No change
 General observations
 10 weeks
General characteristics1
 No change
 General observations
 10 weeks
Size/growth1
 No change
 Body weight measurement
 10 weeks
Anxiety1
 No change
 Elevated plus maze test
 11-12 weeks
Anxiety1
 No change
 Open field test
 11-12 weeks
Anxiety1
 No change
 Light-dark exploration test
 11-12 weeks
Spatial reference memory1
 No change
 Barnes maze test
 10 weeks
Spatial working memory1
 No change
 T-maze test
 10 weeks
General locomotor activity: ambulatory activity1
 No change
 Open field test
 11-12,34 weeks
Grip strength1
 No change
 Grip strength test
 10 weeks
Motor coordination and balance1
 No change
 Accelerating rotarod test
 10 weeks
Spinal reflex1
 No change
 General observations
 10 weeks
Anatomical projections and connectivity1
 No change
 Immunohistochemistry
 3 weeks
Dendritic architecture: dendritic tree complexity1
 No change
 Immunohistochemistry
 3 weeks
Dendritic architecture: spine density1
 No change
 Immunohistochemistry
 3 weeks
Dendritic architecture: spine morphology1
 No change
 Immunohistochemistry
 3 weeks
Somatosensory cortical map architecture1
 No change
 Immunohistochemistry
 Not reported
Stereotypy1
 No change
 Open field test
 11-12, 34 weeks
Vertical jumping or back flipping1
 No change
 Open field test
 11-12, 34 weeks
Pain or nociception: thermal1
 No change
 Open field test
 10 weeks
Social interaction1
 No change
 Reciprocal social interaction test
 10 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Neurophysiology, Physiological parameters, Seizure

M_PCDH19_3_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Targeted expression1
Decreased
Description: Pcdh19 homozygous knockout females show no pcdh19 proteins in the lysates of cerebral cortex compared to controls. in wildtype controls there was no difference in pcdh19 protein expression between males and females at p7. pcdh19 homozygous null female mice show lacz staining (from the lacz knocked into the pcdh19 gene locus) distributed in layers ii/iii and v of the cerebral cortex while there was no lacz signal in controls.
Exp Paradigm: Western blot
 Western blot
 E10.5, e14.5, 1, 2 weeks, 1.2 months
Targeted expression1
Decreased
Description: Pcdh19 homozygous knockout females show no pcdh19 proteins in the lysates of cerebral cortex compared to controls. in wildtype controls there was no difference in pcdh19 protein expression between males and females at p7. pcdh19 homozygous null female mice show lacz staining (from the lacz knocked into the pcdh19 gene locus) distributed in layers ii/iii and v of the cerebral cortex while there was no lacz signal in controls.
Exp Paradigm: Histology: lacz staining
 Histology
 E10.5, e14.5, 1, 2 weeks, 1.2 months
Anatomical projections and connectivity1
 No change
 Immunohistochemistry
 3 weeks
Dendritic architecture: dendritic tree complexity1
 No change
 Immunohistochemistry
 3 weeks
Dendritic architecture: spine density1
 No change
 Immunohistochemistry
 3 weeks
Dendritic architecture: spine morphology1
 No change
 Immunohistochemistry
 3 weeks
Somatosensory cortical map architecture1
 No change
 Immunohistochemistry
 3 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_PCDH19_4_TG

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Cell adhesion1
Increased
Description: Pcdh19 overexpression in the cerebral cortex resulted in accumulation of exogenous pcdh19 protein between neuronal interfaces, in turn resulting in the formation of neuronal clusters compared to controls.
Exp Paradigm: NA
 Immunohistochemistry
 E12-18.5
Neuronal migration1
 No change
 Immunohistochemistry
 E12-18.5
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download PCDH19's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 1000 P19022 IP/WB; Bead aggregation assay
Emond MR , et al. 2011
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
IPPK inositol 1,3,4,5,6-pentakisphosphate 2-kinase 64768 Q9H8X2 IP; LC-MS/MS
Huttlin EL , et al. 2015
PCDHGB1 Protocadherin gamma-B1 56104 Q9Y5G3-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
MET met proto-oncogene 17295 P16056 IP; LC-MS/MS
Xie Z , et al. 2016

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