A new study has just been published in the European Journal of Human Genetics looking at variants in and around the PTCHD1 gene on the X chromosome in individuals with autism spectrum disorder (ASD) and intellectual disability, and suggests that the single nucleotide polymorphism rs7052177 shows significant association with ASD, and that the longest allele of a triplet repeat polymorphism in the promoter region  is also associated with ASD. A rare duplication polymorphism in the promoter, identified in three ASD individuals, is also associated with significantly decreased gene transcription.

This study adds further support to the involvement of PTCHD1 in the etiology of ASD.

see pubmed link for abstract: http://www.ncbi.nlm.nih.gov/pubmed/25782667

A more complete summary of this research paper will shortly appear on the research page……..