Alternate gene names:none known
Associated syndromes or conditions: none known
Genomic location: Xp22.11

Diagnoses observed in people with changes in the PTCHD1 gene:

  • Autism Spectrum Disorder - Yes
  • Intellectual Disability or Developmental Delay - Yes
  • Epilepsy or Seizures - Yes
  • Attention Deficit Hyperactivity Disorder - No
  • Schizophrenia - No
  • Bipolar Disorder - Yes

Support Resources:


Research Opportunities:

In addition to the opportunity to participate in research with Simons VIP, you may be interested in other opportunities.


Infographic: https://magic.piktochart.com/output/5888429-ptchd1-infographic (share this link with others)


Research Article Summaries:

As we learn more from children who have these gene changes, we expect this list of resources and information to grow.

  • Changes in this gene have been identified in children with a variaty of differences, like: autism, features of autism, an autism spectrum disorder, and/or intellectual disability.
  • Torrico et al. (2015) - Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability

    The genetic factors that contribute to autism spectrum disorder (ASD) are not well understood, although it has been found that a combination of common genetic variants (seen more frequently in the population) and rare genetic variants can play a role in the development of ASD. Previous studies have shown that changes in the PTCHD1 gene are associated with autism spectrum disorder (ASD) and intellectual disability (ID).  The goal of this study was to examine the role common variants on PTCHD1 play in the development ASD and to gain additional support for the role rare variants play in ASD and ID. Common variants were analyzed in people with ASD, ID, or no diagnosis (a “control” or comparison sample) and rare variants were also screened for in the same groups of subjects. The study identified one common variant and two rare variants to be significantly associated with ASD. These results support the involvement of common and rare PTCHD1 variants in ASD and suggest that other variants in this gene may contribute to the risk for ASD.  

  • Chaudhry et al. (2014) - Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

    This article reviews the features and characteristics of 23 patients from 16 families who were found to have genetic changes (mutations) in PTCHD1.  This gene has been associated with autism spectrum disorder (ASD), intellectual disability (ID), and subtle differences in physical features.  The type of mutation reported in this paper includes large deletions (section missing) and truncating mutations (shorter than expected – not completely missing) that affect PTCHD and other genes.  The PTCHD1 gene is on the X chromosome (one of the sex chromosomes that determines whether a person is a boy or a girl). Since boys only have one X chromosome, they may be more significantly affected than girls.  Girls have two X chromosomes which gives them some “protection” because they still have an unaffected (functional) PTCHD1 gene on the other X.  Girls with the mutation tend to have very few symptoms (if any), while boys with the mutation may be significantly affected.  Unlike other single gene changes included in the Simons VIP research, the majority of PTCHD1 mutations identified in this study were found to be inherited (21 inherited families out of 23), and two patients were found to have mutations not from either parent (which are called “de novo” mutations).  Patients were noted to have low muscle tone (hypotonia), especially in the facial muscles as an infant, motor/balance issues, and behavior issues (ID or ASD) including attention deficit-hyperactivity disorder (ADHD).  Individuals presented with minor differences in facial features including a long, narrow face, tall forehead, puffy eyelids, and a thin upper lip.  No differences in brain structure or history of seizures were reported.  One female subject had diagnoses of speech delay and ASD.  Additional research is still needed to better understand the effects of genetic changes in PTCHD1 in females.  


You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: PTCHD1.

Back to: Genetic Changes We're Studying