19q12-q13.11CNV Type: Duplication
Largest CNV size: 2463866 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
A de novo duplication spanning this region was identified in a patient from the Deciphering Developmental Disorder (DDD) study that presented with global developmental delay and dysmorphic features (Fitzgerald et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
caubit_16_ASD/ID_discovery_cases
Seven patients from six unrelated families with 19q12-q13.11 deletions that included the TSHZ3 gene but not the 19q13.11 syndrome critical region
7
5/7 cases present with ASD
N/A
57.14% Male
4020000
2
0
2
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
2463866
0
1
1
laurie_25_ASD/DD/ID_discovery_cases
Individuals with previously undiagnosed rare diseases from 6,004 families from the Solve-Rare Diseases Consortium (Solve-RD) resource for whom systemic reanalysis of exome or genome sequencing data was performed and phenotypic information was annotated using the Human Phenotype Ontology.
6447
"Individuals with autism or autistic features as defined by one or more of the following HPO terms: ""Autism"", ""Autistic behavior"", ""Stereotypy"", or ""Recurrent hand flapping""."
55.71% Male
3335297
1
0
1
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
4933712
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
caubit_16_ASD/ID_discovery_cases
N/A
N/A
Discovery platform N/A
Not reported
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
laurie_25_ASD/DD/ID_discovery_cases
European
Exome sequencing, genome sequencing
ClinCNV, Conifer, ExomeDepth
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
caubit_16_ASD/ID_discovery_cases-case2
N/A
M
ASD and intellectual disability
Developmental milestones:. Lanaguge and communication evaluation: absent speech. Behavioral/psychiatric evaluation: ASD. Epilepsy/seizures: seizures that required antiepileptic drugs. Additional medical history: nephrolithiasis.
Intellectual disability
N/A
N/A
4020000
GRCh37
Deletion
No
caubit_16_ASD/ID_discovery_cases-case5
N/A
M
Intellectual disability
Developmental milestones: speech delay. Behavioral/psychiatric evaluation: hyperactivity, social behavioral disinhbition, graphic difficulties. Dysmorphic features: aplasia cutis in midline of scalp.
Intellectual disability
N/A
N/A
2870000
GRCh37
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263549
N/A
F
Developmental delay
Broad lateral eyebrow; Deeply set eye; Upslanted palpebral fissure; Epicanthus; Wide nose; Downturned corners of mouth; Thick lower lip vermilion; Abnormality of tear glands or tear production; Drooling; High palate; Hyperpigmentation of the skin; Inverted nipples; Increased body weight; Short tapering fingers; Impaired pain sensation; Global developmental delay
29888973
32352840
2463868
GRCh38
Duplication
No
laurie_25_ASD/DD/ID_discovery_cases-caseP0013051
M
Developmental delay, intellectual disability, specific learning disability, and autistic behavior
Cryptorchidism/Abnormality of the dentition/Epicanthus/Protruding ear/Upslanted palpebral fissure/Autistic behavior/Delayed speech and language development/Soft skin/Intellectual disability/Motor delay/Specific learning disability/Neonatal hyperbilirubinemia/Clinodactyly of the 5th finger/Short stature/Decreased body weight/Feeding difficulties in infancy/Dilatation of the renal pelvis
29076155
32411451
3335297
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case222
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
28113797
33047508
4933712
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
caubit_16_ASD/ID_discovery_cases-case2
None reported
De novo
Likely segregated
CNV gene content N/A due to lack of defined start and end points but does contain at least part of the TSHZ3 gene (minimal region of overlap of chr19:31765881-31812396; hg19)
caubit_16_ASD/ID_discovery_cases-case5
None reported
De novo
Likely segregated
CNV gene content N/A due to lack of defined start and end points but does contain at least part of the TSHZ3 gene (minimal region of overlap of chr19:31765881-31812396; hg19)
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263549
De novo
Simplex
Segregated
PPIAP58,RPL9P32,TAF9P3,LINC01834,RNA5SP471,RNU6-967P,LINC01782,RNA5SP472,LINC01533,URI1,LINC01791,TSHZ3,LINC01837,ZNF507,ZNF536
laurie_25_ASD/DD/ID_discovery_cases-caseP0013051
Unknown
Simplex
CCNE1,TSHZ3,PLEKHF1,C19orf12,PPIAP58,DPY19L3,TAF9P3,VSTM2B-DT,VSTM2B,DPY19L3-DT,RPL9P32,RNA5SP471,RNA5SP472,LINC01533,LINC01782,UQCRFS1-DT,LINC01837,LINC02841,UQCRFS1,RNU6-967P,RN7SL340P,LINC01791,LINC01834,TSHZ3-AS1,URI1,ZNF536,POP4,ZNF507
mahjani_21_ASD_discovery_cases-case222
Unknown
CCNE1,TSHZ3,PLEKHF1,C19orf12,ANKRD27,RHPN2,FAAP24,CEP89,TDRD12,PPIAP58,DPY19L3,LINC00906,TAF9P3,VSTM2B-DT,VSTM2B,RGS9BP,DPY19L3-DT,NUDT19,RPL9P32,RPS12P31,MAN1A2P1,RPL31P60,LINC01532,LINC01533,RNA5SP470,RNA5SP472,RNA5SP471,LINC01782,LINC01837,UQCRFS1-DT,LINC02841,UQCRFS1,RNU6-967P,RN7SL789P,RN7SL340P,RN7SKP22,LINC01791,TSHZ3-AS1,LINC01834,SNORA68B,URI1,NUDT19-DT,ZNF536,PDCD5,ZNF507,POP4,SLC7A9
Controls
No Control Data Available
No Animal Model Data Available