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.

Bussini, A., Righi, R., Pessina, C., Genoni, A., Cristofari, E., Meli, A., et al. (2019). The p.Gly130Val mutation in the GJB2 gene: A familiar case of autosomal dominant non-syndromic hearing loss. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 127, 109653 [10.1016/j.ijporl.2019.109653].

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

Broccolo F.;
2019

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.
Articolo in rivista - Articolo scientifico
Scientifica
Connexin 26, GJB2, Hearing loss, p.G130V, Skin diseases, Child, Connexin 26, Connexins, Female, Hearing Loss, Sensorineural, Heterozygote, Humans, Male, Mutation, Pedigree
English
Bussini, A., Righi, R., Pessina, C., Genoni, A., Cristofari, E., Meli, A., et al. (2019). The p.Gly130Val mutation in the GJB2 gene: A familiar case of autosomal dominant non-syndromic hearing loss. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 127, 109653 [10.1016/j.ijporl.2019.109653].
Bussini, A; Righi, R; Pessina, C; Genoni, A; Cristofari, E; Meli, A; Granata, P; Meroni, E; Broccolo, F; Casalone, R
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/279695
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