Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma. Issue 1 (1st January 2017)

• Record Type: Journal Article
• Authors: Arai, Yasuhiro; Takahashi, Masahiro; Sakuma, Naoko; Nisio, Shin-Ya; Oridate, Nobuhiko; Usami, Shin-Ichi
• Is Part Of: Acta oto-laryngologica case reports. Volume 2:Issue 1(2017)
• Page Start: 137
• Page End: 140
• Publication Date: 2017-01-01
• Subjects: GJB2 -- hearing loss -- palmoplantar keratoderma -- autosomal dominant -- autosomal recessive
• DOI: 10.1080/23772484.2017.1376587
• Languages: English
• ISSNs: 2377-2484

Abstract

Abstract: GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal dominant non-syndromic hearing loss (DFNA3). In addition, this gene is also associated with skin homeostasis and some mutations in this gene cause autosomal dominant syndromic hearing loss with skin disorders (Keratitis-ichthyosis-deafness syndrome, Hystrix-like icthyosis-deafness syndrome, Palmoplantar keratoderma with deafness syndrome, Vohwinkel syndrome and Bart–Pumphrey syndrome). Herein we report a Japanese sensorineural hearing loss patient with palmoplantar keratoderma who carries a rare compound heterozygote of autosomal dominant and autosomal recessive GJB2 gene mutations. This is the first report of GJB2- associated hearing loss with palmoplantar keratoderma caused by compound heterozygous autosomal dominant and autosomal recessive GJB2 gene mutations in a Japanese patient.