De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome

被引：1

作者：

Pranckeniene, Laura ^{[1
]}

Preiksaitiene, Egle ^{[1
]}

Gueneau, Lucie ^{[2
]}

Reymond, Alexandre ^{[2
]}

Kucinskas, Vaidutis ^{[1
]}

机构：

[1] Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-01513 Vilnius, Lithuania

[2] Univ Lausanne, Fac Biol & Med, Ctr Integrat Genom, Lausanne, Switzerland

来源：

GENOMICS INSIGHTS | 2019年 / 12卷

基金：

瑞士国家科学基金会;

关键词：

Intellectual disability; CHARGE syndrome; CHD7; de novo variant; WES; MUTATIONS;

D O I：

10.1177/1178631019839010

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in particular congenital anomalies, including choanal atresia and malformations of the heart, inner ear, and retina. Variants in CHD7 have been shown to cause CHARGE syndrome. Here, we report the identification of a novel de novo p.Asp2119_Pro2120ins6 duplication variant in a conserved region of CHD7 in a severely affected boy presenting with 3 and 5 of the CHARGE cardinal major and minor signs, respectively, combined with congenital umbilical hernia, congenital hernia at the linea alba, mildly hypoplastic inferior vermis, slight dilatation of the lateral ventricles, prominent metopic ridge, and hypoglycemic episodes.

引用

页码：1 / 5

页数：5

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