A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

被引：152

作者：

Shinawi, Marwan ^{[1
]}

Schaaf, Christian P. ^{[1
]}

Bhatt, Samarth S. ^{[1
]}

Xia, Zhilian ^{[1
]}

Patel, Ankita ^{[1
]}

Cheung, Sau Wai ^{[1
]}

Lanpher, Brendan ^{[2
]}

Nagl, Sandra ^{[3
]}

Herding, Heinrich Stephan

Nevinny-Stickel, Claudia ^{[3
]}

Immken, LaDonna L.

Patel, Gayle Simpson

German, Jennifer Ruth ^{[1
]}

Beaudet, Arthur L. ^{[1
]}

Stankiewicz, Pawel ^{[1
,4
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Vanderbilt Univ, Div Genet & Genom Med, Nashville, TN USA

[3] Med Versorgungszentrum Humane Genet, Munich, Germany

[4] Inst Mother & Child Hlth, Dept Med Genet, Warsaw, Poland

来源：

NATURE GENETICS | 2009年 / 41卷 / 12期

基金：

美国国家卫生研究院;

关键词：

IDIOPATHIC GENERALIZED EPILEPSY; MENTAL-RETARDATION; INCREASE RISK; GENE CHRNA7; SCHIZOPHRENIA; MICRODELETIONS; DUPLICATIONS; DISORDERS; SEIZURES; LOCUS;

D O I：

10.1038/ng.481

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy repeats on the normal and inverted region of chromosome 15q13.3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome.

引用

页码：1269 / 1271

页数：3

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