Abstract:
:Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5-10% of the patients with ASD, and recent applications of array comparative genomic hybridisation (aCGH) are identifying further candidate regions and genes. In this study, we present four patients who implicate microcephalin 1 (MCPH1) in band 8p23.1 as an ASD susceptibility gene. Patient 1 was a girl with a syndromic form of autistic disorder satisfying the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS) and Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. Oligonucleotide aCGH (oaCGH) showed that she had a classic inv dup del(8)(qter-> p23.1::p23.1-> p21.2) containing at least three candidate genes; MCPH1 and DLGAP2 within the 6.9-Mb terminal deletion and NEF3 within the concomitant 14.1-Mb duplication. Three further patients with MCPH1 copy number changes were found using single-nucleotide polymorphism (SNP) array analysis in a cohort of 54 families with ASD patients. Our results show that ASD can be a component of the classical inv dup del(8) phenotype and identify changes in copy number of MCPH1 as a susceptibility factor for ASD in the distal short arm of chromosome 8.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Ozgen HM,van Daalen E,Bolton PF,Maloney VK,Huang S,Cresswell L,van den Boogaard MJ,Eleveld MJ,van 't Slot R,Hochstenbach R,Beemer FA,Barrow M,Barber JC,Poot Mdoi
10.1111/j.1399-0004.2009.01254.xsubject
Has Abstractpub_date
2009-10-01 00:00:00pages
348-56issue
4eissn
0009-9163issn
1399-0004pii
CGE1254journal_volume
76pub_type
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