A 15q13.3 microdeletion segregating with autism

被引：0
作者：
Alistair T Pagnamenta
Kirsty Wing
Elham Sadighi Akha
Samantha JL Knight
Sven Bölte
Gabriele Schmötzer
Eftichia Duketis
Fritz Poustka
Sabine M Klauck
Annemarie Poustka
Jiannis Ragoussis
Anthony J Bailey
Anthony P Monaco
机构：
[1] The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare Genomanalyse
[2] University of Oxford,University Department of Psychiatry
[3] The Oxford Partnership Comprehensive Biomedical Research Centre,undefined
[4] The Wellcome Trust Centre for Human Genetics,undefined
[5] University of Oxford,undefined
[6] Klinik für Psychiatrie und Psychotherapie des Kindes-und Jugendalters,undefined
[7] JW Goethe Universität,undefined
[8] Deutsches Krebsforschungszentrum,undefined
[9] Heidelberg,undefined
[10] Germany,undefined
[11] Warneford Hospital,undefined
来源：
European Journal of Human Genetics | 2009年 / 17卷
关键词：
autism; CNV; genetic modifier; learning disability; schizophrenia; phenotypic variability;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
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页码：687 / 692
页数：5
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