Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism

Clin Genet. 2011 Jan;79(1):79-85. doi: 10.1111/j.1399-0004.2010.01590.x. Epub 2010 Nov 22.

Abstract

Submicroscopic chromosomal anomalies play an important role in the aetiology of intellectual disability (ID) and have been shown to account for up to 10% of non-syndromic forms. We present a family with two affected boys compatible with X-linked inheritance of a phenotype of severe neurodevelopmental disorder co-segregating with a deletion in Xp22.11 exclusively containing the PTCHD1 gene. Although the exact function of this gene is unknown to date, the structural overlap of its encoded patched domain-containing protein 1, the transmembrane protein involved in the sonic hedgehog pathway, and its expression in human cortex and cerebellum as well as in mice and drosophila brain suggests a causative role of its nullisomy in the developmental phenotype of our family. Our findings support the recent notions that PTCHD1 may play a role in X-linked intellectual disability (XLID) and autism disorders.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / genetics
  • Autistic Disorder / physiopathology
  • Child
  • Chromosomes, Human, X*
  • Genes, X-Linked*
  • Humans
  • Intellectual Disability* / genetics
  • Intellectual Disability* / physiopathology
  • Male
  • Patched Receptors
  • Pedigree
  • Phenotype
  • Receptors, Cell Surface / genetics*
  • Sequence Deletion
  • Young Adult

Substances

  • Patched Receptors
  • Receptors, Cell Surface