PTCHD1-ASPTCHD1antisense RNA (head to head)
Autism Reports / Total Reports
4 / 4Rare Variants / Common Variants
3 / 1Aliases
PTCHD1-AS, DDX53-AS1, PTCHD1AS1, PTCHD1AS2Associated Syndromes
-Chromosome Band
Xp22.11Associated Disorders
-Genetic Category
Rare Single Gene Mutation, Genetic AssociationRelevance 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. An X-chromosome-wide association study of 6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females) in Mendes et al., 2025 identified an intronic SNP in PTCHD1-AS that reached the significance threshold for association in meta-XWAS and both-XWAS analyses; furthemore, rare CNV deletions (<1% frequency in gnomAD) overlapping at least one exon of PTCHD1-AS were found to be enriched in male ASD cases from MSSNG, SSC, and SPARK compared to unaffected family members in this report.
Molecular Function
External Links
SFARI Genomic Platforms
Reports related to PTCHD1-AS (4 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 | - |
| 4 | Recent Recommendation | - | Marla Mendes et al. (2025) | 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 (1)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) |
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.