PTCHD1
Homo sapiens
Gene Name: patched domain containing 1
Aliases: FLJ30296; MGC149798; PTCHD1
Chromosome No: X
Chromosome Band: Xp22.11
Genetic Category: Rare Single Gene variant-Genetic association, rare single gene variant-Functional-Rare single gene variant/Functional
Aliases: FLJ30296; MGC149798; PTCHD1
Chromosome No: X
Chromosome Band: Xp22.11
Genetic Category: Rare Single Gene variant-Genetic association, rare single gene variant-Functional-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 24
Recent Reports: 2
Annotated variants: 74
Associated CNVs: 10
Evidence score: 3
ASD Reports: 24
Recent Reports: 2
Annotated variants: 74
Associated CNVs: 10
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Several studies have found rare single gene mutations, including deletions and missense mutations, in the PTCHD1 gene that have associations with autism. For example, Marshall et al. (2008) found a 160kb deletion that results in a null mutation for the PTCHD1 gene.
Molecular Function
PTCHD1 is suggested to be a transmembrane protein containing a patched-related domain with twelve transmembrane helices, highly related to the Hedgehog (Hh) receptors PATCHED1 (PTCH1) and PTCH2 as well as to Niemann-Pick Type C1 protein (NPC1).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Structural variation of chromosomes in autism spectrum disorder.
ASD
Positive Association
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
ASD
ID
Support
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports
DD, ID
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Identification of Novel Gene Variants for Autism Spectrum Disorders in the Lebanese Population Using Whole-Exome Sequencing
ASD
Support
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability
ASD
ID
Support
Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.
DD, ID
Autistic features
Support
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder
NDD
ASD, ID
Support
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half
ASD
ADD, OCD, ID
Support
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
ASD
ID
Support
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
DD, ID, Afs
Support
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction
DD
Autistic behavior
Support
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
ID
ASD/autistic traits
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence
Support
Shared behavioural impairments in visual perception and place avoidance across different autism models are driven by periaqueductal grey hypoexcitability in Setd5 haploinsufficient mice
ASD
Support
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Epilepsy/seizures
Support
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study
ASD
Support
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
DD, ID
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD
Recent Recommendation
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
ASD, ID
Recent Recommendation
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
ID
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN203R027
frameshift_variant
c.2128del
p.Leu710CysfsTer13
Familial
Maternal
Multi-generational
GEN203R040
frameshift_variant
c.1796dup
p.Asn599LysfsTer8
Familial
Maternal
Multi-generational
GEN203R041
frameshift_variant
c.1444del
p.Leu482TyrfsTer14
Familial
Maternal
GEN203R042
stop_gained
c.2071C>T
p.Arg691Ter
De novo
Simplex
GEN203R043
frameshift_variant
c.1444del
p.Leu482TyrfsTer14
De novo
Simplex
GEN203R061
missense_variant
c.224C>A
p.Pro75Gln
Familial
Maternal
Multiplex
GEN203R063
missense_variant
c.1877T>C
p.Phe626Ser
Familial
Maternal
Extended multiplex
GEN203R065
stop_gained
c.1765G>T
p.Glu589Ter
Familial
Maternal
Multiplex
GEN203R066
missense_variant
c.2072G>A
p.Arg691Gln
De novo
Simplex
GEN203R067
stop_gained
c.2289C>A
p.Tyr763Ter
Familial
Maternal
Multiplex
GEN203R068
missense_variant
c.605G>A
p.Arg202Gln
Unknown
Unknown
GEN203R069
missense_variant
c.751C>T
p.Pro251Ser
Familial
Maternal
Unknown
GEN203R070
missense_variant
c.1624A>G
p.Thr542Ala
Unknown
Maternal
Unknown
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN203C001
intron_variant
rs7052177
c.351+21539T>G
595 ASD cases and 671 controls (European descent)
Discovery
GEN203C002
intron_variant
rs7052177
c.351+21539T>G
399 ASD cases and 364 controls (European descent)
Replication
GEN203C003
trinucleotide_repeat_microsatellite_feature, 2KB_upstream_variant
(GCC)14
240 ASD cases and 585 controls
Discovery
