De Novo 15q13.3 Microdeletion With Cryptogenic West Syndrome

被引：17

作者：

Lacaze, Elodie ^{[1
]}

Gruchy, Nicolas ^{[1
]}

Penniello-Valette, Marie-Jose ^{[2
]}

Plessis, Ghislaine ^{[1
]}

Richard, Nicolas ^{[1
]}

Decamp, Mathieu ^{[1
]}

Mittre, Herve ^{[1
]}

Leporrier, Nathalie ^{[1
]}

Andrieux, Joris ^{[3
]}

Kottler, Marie-Laure ^{[1
]}

Gerard, Marion ^{[1
]}

机构：

[1] Hop Cote Nacre, Dept Genet, Caen, France

[2] Hop Cote Nacre, Dept Neuropediat, Caen, France

[3] CHRU Lille, Lab Genet Med, F-59037 Lille, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161卷 / 10期

关键词：

West syndrome; epilepsy; CHRNA7; array-CGH; 15q13; 3; microdeletion; FRONTAL-LOBE EPILEPSY; INFANTILE SPASMS; DEVELOPMENTAL DISORDER; MENTAL-RETARDATION; GENE; MUTATIONS; DELETION; ASSOCIATION; CHRNA7; BRAIN;

D O I：

10.1002/ajmg.a.36085

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

West syndrome is a well-recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental arrest. West syndrome is heterogenous, caused by mutations of genes ARX, STXBP1, KCNT1 among others; 16p13.11 and 17q21.31 microdeletions are less frequent, usually associated with intellectual disability and facial dysmorphism. So-called idiopathic West syndrome is of better prognostic, without prior intellectual deficiency and usually responsive to anti-epileptic treatment. We report on a boy falling within the scope of idiopathic West syndrome, with no dysmorphic features and normal development before the beginning of West syndrome, with a good resolution after treatment, bearing a de novo 15q13.3 microdeletion. Six genes are located in the deleted region, including CHRNA7, which encodes a subunit of a nicotinic acetylcholine receptor, and is frequently associated with epilepsy. Exploration of the 15q13.3 region should be proposed in idiopathic West syndrome. (c) 2013 Wiley Periodicals, Inc.

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页码：2582 / 2587

页数：6

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