A 15q13.3 microdeletion segregating with autism

• Published in: European journal of human genetics : EJHG 2009-05, Vol.17 (5), p.687-692
• Main Authors: Pagnamenta, Alistair T, Wing, Kirsty, Sadighi Akha, Elham, Knight, Samantha JL, Bölte, Sven, Schmötzer, Gabriele, Duketis, Eftichia, Poustka, Fritz, Klauck, Sabine M, Poustka, Annemarie, Ragoussis, Jiannis, Bailey, Anthony J, Monaco, Anthony P
• Format: Article
• Language: English
• Subjects: Autistic Disorder - genetics; Autistic Disorder - pathology; Bioinformatics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Child; Child clinical studies; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 15 - genetics; Comparative Genomic Hybridization; Cytogenetics; Developmental disorders; Family Health; Fundamental and applied biological sciences. Psychology; Gene Expression; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes; Human Genetics; Humans; Infantile autism; Male; Medical genetics; Medical sciences; Molecular and cellular biology; Pedigree; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Short Report
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/ejhg.2008.228

Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare ∼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.