The p.Gly130Val mutation in the GJB2 gene: A familiar case of autosomal dominant non-syndromic hearing loss

Adelaide Bussini; Rossana Righi; Chiara Pessina; Angelo Genoni; Eliana Cristofari; Annalisa Meli; Paola Granata; Emanuela Meroni; Francesco Broccolo; Rosario Casalone

doi:10.1016/j.ijporl.2019.109653

The p.Gly130Val mutation in the GJB2 gene: A familiar case of autosomal dominant non-syndromic hearing loss

Int J Pediatr Otorhinolaryngol. 2019 Dec:127:109653. doi: 10.1016/j.ijporl.2019.109653. Epub 2019 Aug 22.

Affiliations

¹ Unit of Cytogenetics and Medical Genetic, ASST Settelaghi, Varese, Italy.
² Unit of Audiology, ASST Settelaghi, Varese, Italy.
³ Department of Medicine and Surgery (School of Medicine), University of Milano-Bicocca, Monza, Italy. Electronic address: [email protected].
⁴ Unit of Cytogenetics and Medical Genetic, ASST Settelaghi, Varese, Italy. Electronic address: [email protected].

PMID: 31472357
DOI: 10.1016/j.ijporl.2019.109653

Abstract

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.

Keywords: Connexin 26; GJB2; Hearing loss; Skin diseases; p.G130V.

Publication types

Case Reports

MeSH terms

Child
Connexin 26 / genetics*
Connexins / genetics*
Female
Hearing Loss, Sensorineural / genetics*
Heterozygote
Humans
Male
Mutation
Pedigree

Substances

Connexins
GJB2 protein, human
Connexin 26