title: A 15q13.3 microdeletion segregating with autism.
abstract: Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare approximately 2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This genomic loss lies between distal break points of the Prader-Willi/Angelman syndrome locus and was first described in association with MR and epilepsy. Together with recent studies that have also implicated this genomic imbalance in schizophrenia, our data indicate that this CNV shows considerable phenotypic variability. Further studies should aim to characterise the precise phenotypic range of this CNV and may lead to the discovery of genetic or environmental modifiers.
authors.affiliation: The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
authors.forename: Alistair T
authors.initials: AT
authors.lastname: Pagnamenta
authors.forename: Kirsty
authors.initials: K
authors.lastname: Wing
authors.forename: Elham
authors.initials: E
authors.lastname: Sadighi Akha
authors.forename: Samantha J L
authors.initials: SJ
authors.lastname: Knight
authors.forename: Sven
authors.initials: S
authors.lastname: Bölte
authors.forename: Gabriele
authors.initials: G
authors.lastname: Schmötzer
authors.forename: Eftichia
authors.initials: E
authors.lastname: Duketis
authors.forename: Fritz
authors.initials: F
authors.lastname: Poustka
authors.forename: Sabine M
authors.initials: SM
authors.lastname: Klauck
authors.forename: Annemarie
authors.initials: A
authors.lastname: Poustka
authors.forename: Jiannis
authors.initials: J
authors.lastname: Ragoussis
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Bailey
authors.forename: Anthony P
authors.initials: AP
authors.lastname: Monaco
mesh_terms: D001321:Autistic Disorder / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005192:Family Health; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree