Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/62998
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Type: Journal article
Title: Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disability
Author: Gecz, J.
Citation: Science Translational Medicine, 2010; 2(49):1-9
Publisher: American Association for the Advancement of Science
Issue Date: 2010
ISSN: 1946-6234
1946-6242
Statement of
Responsibility: 
Abdul Noor... Jozef Gecz... et al.
Abstract: Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is one of the most highly heritable of the complex disorders, although the underlying genetic factors remain largely unknown. Here, we report mutations in the X-chromosome PTCHD1 (patched-related) gene in seven families with autism spectrum disorder (ASD) and in three families with intellectual disability. A 167-kilobase microdeletion spanning exon 1 was found in two brothers, one with ASD and the other with a learning disability and ASD features; a 90-kilobase microdeletion spanning the entire gene was found in three males with intellectual disability in a second family. In 900 probands with ASD and 208 male probands with intellectual disability, we identified seven different missense changes (in eight male probands) that were inherited from unaffected mothers and not found in controls. Two of the ASD individuals with missense changes also carried a de novo deletion at another ASD susceptibility locus (DPYD and DPP6), suggesting complex genetic contributions. In additional males with ASD, we identified deletions in the 5′ flanking region of PTCHD1 that disrupted a complex noncoding RNA and potential regulatory elements; equivalent changes were not found in male control individuals. Thus, our systematic screen of PTCHD1 and its 5′ flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability.
Keywords: Autism Genome Project Consortium; Animals; Humans; Mice; Potassium Channels; Membrane Proteins; Nerve Tissue Proteins; Oligonucleotide Array Sequence Analysis; In Situ Hybridization; Reverse Transcriptase Polymerase Chain Reaction; Autistic Disorder; Mutation; Female; Male; Genes, X-Linked; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; Intellectual Disability
Rights: Copyright 2010 by the American Association for the Advancement of Science.
RMID: 0020102507
DOI: 10.1126/scitranslmed.3001267
Appears in Collections:Paediatrics publications

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