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

Détails

ID Serval
serval:BIB_13ACC0CD9BE3
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome.
Périodique
Genomics insights
Auteur(s)
Pranckėnienė L., Preikšaitienė E., Gueneau L., Reymond A., Kučinskas V.
ISSN
1178-6310 (Print)
ISSN-L
1178-6310
Statut éditorial
Publié
Date de publication
2019
Peer-reviewed
Oui
Volume
12
Pages
1178631019839010
Langue
anglais
Notes
Publication types: Case Reports
Publication Status: epublish
Résumé
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.
Mots-clé
CHARGE syndrome, CHD7, Intellectual disability, WES, de novo variant
Pubmed
Web of science
Open Access
Oui
Création de la notice
27/05/2019 18:22
Dernière modification de la notice
21/08/2019 6:32
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