PTCHD1-AS
Homo sapiens
Gene Name: PTCHD1antisense RNA (head to head)
Aliases: DDX53-AS1, PTCHD1AS1, PTCHD1AS2
Chromosome No: X
Chromosome Band: Xp22.11
Genetic Category: Rare single gene variant
Aliases: DDX53-AS1, PTCHD1AS1, PTCHD1AS2
Chromosome No: X
Chromosome Band: Xp22.11
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 11
Evidence score: null
ASD Reports: 3
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 11
Evidence score: null
| Associated Disorders: |
|
Relevance to Autism
Analysis of induced pluripotent stem cells (iPSCs) from subjects with ASD with deletions affecting PTCHD1-AS (previously reported in Noor et al., 2010 and Chaudhry et al., 2015) demonstrated that iPSC-derived neurons exhibited reduced miniature excitatory postsynaptic current (mESPC) frequency and N-methyl-D-asparate receptor hypofunction (Ross et al., 2019). A novel deletion encompassing the third exon of PTCHD1-AS was observed in three brothers with ASD in the same report; impaired synaptic function was subsequently observed both in CRISPR-edited neurons with a targeted deletion of PTCHD1-AS exon 3 and in iPSC-derived neurons from one of the three ASD-affected brothers.
Molecular Function
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
ASD
Support
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
ASD
Recent Recommendation
Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS.
ASD