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

Abstract：

: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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Wells C,Loundon N,Garabedian N,Wiener-Vacher S,Cordier-Bouvier MD,Goudeffroye G,Attié-Bitach T,Marlin S

doi

10.1016/j.ejmg.2016.02.012

subject

Has Abstract

pub_date

2016-04-01 00:00:00

pages

195-7

issue

4

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(16)30032-5

journal_volume

59

pub_type

杂志文章

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