title: Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.
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.
authors.affiliation: Division of Medical Genetics, University Children's Hospital and Department of Biomedicine, Römergasse 8,Basel, Switzerland. Isabel.Filges@unibas.ch
authors.forename: I
authors.initials: I
authors.lastname: Filges
authors.forename: B
authors.initials: B
authors.lastname: Röthlisberger
authors.forename: A
authors.initials: A
authors.lastname: Blattner
authors.forename: N
authors.initials: N
authors.lastname: Boesch
authors.forename: P
authors.initials: P
authors.lastname: Demougin
authors.forename: F
authors.initials: F
authors.lastname: Wenzel
authors.forename: A R
authors.initials: AR
authors.lastname: Huber
authors.forename: K
authors.initials: K
authors.lastname: Heinimann
authors.forename: P
authors.initials: P
authors.lastname: Weber
authors.forename: P
authors.initials: P
authors.lastname: Miny
mesh_terms: D001321:Autistic Disorder / Q000235:genetics / Q000503:physiopathology; D002648:Child; D041321:Chromosomes, Human, X; D050172:Genes, X-Linked; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology; D008297:Male; D000072079:Patched Receptors; D010375:Pedigree; D010641:Phenotype; D011956:Receptors, Cell Surface / Q000235:genetics*; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D000072079:Patched Receptors; D011956:Receptors, Cell Surface