For what it’s worth, I’ve finally added an Excel file listing known CNVs upstream of PTCHD1, in the region overlapping DDX53, and exons of the non-coding antisense RNA, PTCHD1-AS (also a likely pseudogene of the chromosome 7 gene FAM3C).

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……..

The WordPress.com stats helper monkeys prepared a 2014 annual report for this blog.

Here’s an excerpt:

A San Francisco cable car holds 60 people. This blog was viewed about 1,300 times in 2014. If it were a cable car, it would take about 22 trips to carry that many people.

Click here to see the complete report.