Gjb2-Related Non-Syndromic Hearing Loss Variants’ Spectrum and Their Frequency in Turkish Population

Abstract

Objective: Hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social functioning which impede the quality of life. Due to the major involvement of the genetic factors in HL, especially non-syndromic HL (NSHL), genetic diagnosis and genetic counseling have a major impact on early management of the affected individuals and their families. Herein, we report the GJB2 gene variants and their frequencies in NSHL cohort at a tertiary health center between 2002-2021 to contribute for the future genetic counseling of Turkish NSHL patients.Materials and Methods: Two exons of the GJB2 gene were amplified in 402 NSHL patients by two separate PCR reactions and sequenced using the Sanger technique.GJB2 gene variant frequency and spectrum İstanbul Tıp Fakültesi Dergisi • J Ist Faculty Med

Unusual phenotype in 35delG mutation: a case report

“…Mutations in the GJB2 gene may cause skin abnormalities in addition to hearing loss. In the literature, these mutations may be responsible for keratitis- ichthyosis- deafness (KID) syndrome, palmoplantar keratoderma (PPK) syndrome, Vohwinkel syndrome, and extensive hyperkeratotic lesions in the skin [ 15 ]. Our patient was also diagnosed with rosacea.…”