A case of mild CHARGE syndrome associated with a splice site mutation in CHD7

被引：7

作者：

Wells, Constance ^{[1
]}

Loundon, Natalie ^{[2
]}

Garabedian, Noel ^{[2
]}

Wiener-Vacher, Sylvette ^{[3
]}

Cordier-Bouvier, Marie-Dominique ^{[4
]}

Goudeffroye, Geraldine ^{[1
]}

Attie-Bitach, Tania ^{[1
,5
]}

Marlin, Sandrine ^{[6
]}

机构：

[1] Hop Necker Enfants Malad, Serv Histol Embryol & Cytogenet, F-75015 Paris, France

[2] Hop Necker Enfants Malad, Serv ORL, F-75015 Paris, France

[3] Hop Robert Debre, Serv ORL, F-75019 Paris, France

[4] Hop Trousseau, Serv Radiol, F-75571 Paris, France

[5] Univ Paris 05, Sorbonne Paris Cite, Paris, France

[6] Hop Necker Enfants Malad, Ctr Reference Surdites Genet, Serv Genet, Inst Imagine, F-75015 Paris, France

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2016年 / 59卷 / 04期

关键词：

CHARGE; CHD7; Sensorineural hearing impairment; Semicircular canal malformation; MAJOR CRITERIA; GENE; SPECTRUM;

D O I：

10.1016/j.ejmg.2016.02.012

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

CHARGE syndrome (MIM#214800) (Coloboma, Heart defect, Atresia of choanae, Retarded growth and development, Genital hypoplasia, Ear abnormalities/deafness) is caused by heterozygous mutation of CHD7 transmitted in an autosomal dominant manner. In this report, we describe a patient with bilateral hearing impairment, unusually-shaped ears, no intellectual disability and a patent ductus arteriosus. Further investigation showed abnormal semicircular canals and the presence of olfactory bulbs. He does not fulfill the Blake or the Verloes criteria for CHARGE. A de novo mutation at the donor splice site of intron 33 was identified (c.7164 + 1G > A). It is of importance to diagnose mildly affected patients for appropriate genetic counselling and to better understand the mild end of the phenotypic spectrum of CHARGE syndrome. (C) 2016 Elsevier Masson SAS. All rights reserved.

引用

页码：195 / 197

页数：3

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