Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability
Original research article by B. Torrico et al. (2015)
Read the abstract here.
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 changes (seen more frequently in the population) and rare genetic changes 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 changes on PTCHD1 play in the development ASD and to gain additional support for the role rare changes play in ASD and ID. Common changes were analyzed in people with ASD, ID, or no diagnosis (a “control,” or comparison, sample) and rare changes were also screened for in the same groups of subjects. The study identified one common change and two rare changes to be significantly associated with ASD. These results support the involvement of common and rare PTCHD1 changes in ASD and suggest that other changes in this gene may contribute to the risk for ASD.