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

Details

Serval ID
serval:BIB_13ACC0CD9BE3
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome.
Journal
Genomics insights
Author(s)
Pranckėnienė L., Preikšaitienė E., Gueneau L., Reymond A., Kučinskas V.
ISSN
1178-6310 (Print)
ISSN-L
1178-6310
Publication state
Published
Issued date
2019
Peer-reviewed
Oui
Volume
12
Pages
1178631019839010
Language
english
Notes
Publication types: Case Reports
Publication Status: epublish
Abstract
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.
Keywords
CHARGE syndrome, CHD7, Intellectual disability, WES, de novo variant
Pubmed
Web of science
Open Access
Yes
Create date
27/05/2019 18:22
Last modification date
21/08/2019 6:32
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