A 15q13.3 microdeletion segregating with autism.
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.
Pagnamenta
Alistair T
AT
The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Wing
Kirsty
K
Sadighi Akha
Elham
E
Knight
Samantha J L
SJ
Bölte
Sven
S
Schmötzer
Gabriele
G
Duketis
Eftichia
E
Poustka
Fritz
F
Klauck
Sabine M
SM
Poustka
Annemarie
A
Ragoussis
Jiannis
J
Bailey
Anthony J
AJ
Monaco
Anthony P
AP
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