The p.Gly130Val mutation in the GJB2 gene: A familiar case of autosomal dominant non-syndromic hearing loss.
Connexin 26
GJB2
Hearing loss
Skin diseases
p.G130V
Journal
International journal of pediatric otorhinolaryngology
ISSN: 1872-8464
Titre abrégé: Int J Pediatr Otorhinolaryngol
Pays: Ireland
ID NLM: 8003603
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
09
03
2019
revised:
01
08
2019
accepted:
20
08
2019
pubmed:
1
9
2019
medline:
8
2
2020
entrez:
1
9
2019
Statut:
ppublish
Résumé
Several forms of sensorineural hearing loss (SNHL) have been imputated to connexins mutations and prevalently to connexin 26 (Cx26), codified by the GJB2 gene (gap junction protein, beta 2). Here, we report the first familiar case (heterozygous p. G130V mutation) of non-syndromic (without any dermatological manifestation) dominant profound SNHL. Proband was a 6-years-old male with post-lingual bilateral profound SNHL, clinically identified at the age of 3 with diagnosis of severe SNHL. We confirm that the p. G130V variant of the GJB2 gene is causative of autosomal dominant form of SNHL, although it is not always associated with the presence of skin diseases.
Identifiants
pubmed: 31472357
pii: S0165-5876(19)30397-0
doi: 10.1016/j.ijporl.2019.109653
pii:
doi:
Substances chimiques
Connexins
0
GJB2 protein, human
0
Connexin 26
127120-53-0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
109653Informations de copyright
Copyright © 2019 Elsevier B.V. All rights reserved.