A 15q13.3 microdeletion segregating with autism

被引：105

作者：

Pagnamenta, Alistair T.

Wing, Kirsty

Akha, Elham Sadighi ^{[1
]}

Knight, Samantha J. L. ^{[1
]}

Boelte, Sven ^{[2
]}

Schmoetzer, Gabriele ^{[2
]}

Duketis, Eftichia ^{[2
]}

Poustka, Fritz ^{[2
]}

Klauck, Sabine M. ^{[3
]}

Poustka, Annemarie ^{[3
]}

Ragoussis, Jiannis

Bailey, Anthony J. ^{[4
]}

Monaco, Anthony P. ^{[1
]}

机构：

[1] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, England

[2] Goethe Univ Frankfurt, Klin Psychiat & Psychotherapie Kindes & Jugendalt, Frankfurt, Germany

[3] Deutsch Krebsforschungszentrum, Abt Mol Genomanal, D-6900 Heidelberg, Germany

[4] Warneford Hosp, Univ Dept Psychiat, Oxford OX3 7JX, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2009年 / 17卷 / 05期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

autism; CNV; genetic modifier; learning disability; schizophrenia; phenotypic variability; COPY-NUMBER VARIATION; STRUCTURAL VARIATION; DISORDER; 16P11.2; GENES; RISK; LOCI;

D O I：

10.1038/ejhg.2008.228

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare similar to 2Mb 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.

引用

页码：687 / 692

页数：6

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