PTCHD1-ASPTCHD1antisense RNA (head to head)
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
3 / 0Aliases
PTCHD1-AS, DDX53-AS1, PTCHD1AS1, PTCHD1AS2Associated Syndromes
-Chromosome Band
Xp22.11Associated Disorders
-Genetic Category
Rare Single Gene MutationRelevance 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
SFARI Genomic Platforms
Reports related to PTCHD1-AS (3 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability | Noor A , et al. (2010) | Yes | - |
| 2 | Support | Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder | Chaudhry A , et al. (2014) | Yes | - |
| 3 | Recent Recommendation | Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS | Ross PJ , et al. (2019) | Yes | - |
Rare Variants (3)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | copy_number_loss | Familial | Maternal | - | 25131214 | Chaudhry A , et al. (2014) | |
| - | - | copy_number_loss | Familial | Maternal | Simplex | 20844286 | Noor A , et al. (2010) | |
| - | - | copy_number_loss | Familial | Maternal | Multiplex | 31540669 | Ross PJ , et al. (2019) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
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.
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
10/1/2019
Increased from to 2
New Scoring Scheme
Description
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.