Hearing impairment not etiologically associated with clinical signs in other organs (non-
syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be …

Mutations in human connexin (Cx) genes have been related to diseases, which we termed
connexinopathies. Such hereditary disorders include nonsyndromic or syndromic deafness …

Simple Summary Hearing loss is the most common sensory impairment in humans. Globally,
GJB2 is the most common responsible gene, with missense variants being the most frequent …

Objective Hereditary hearing loss (HL) is a noticeable concern in medicine all over the
world. On average, 1 in 166 babies born are diagnosed with HL in Iran, which makes it a …

Mutations in the GJB2 gene are a main cause of autosomal‐recessive nonsyndromic
hearing loss (ARNSHL) in many populations. Previous studies have estimated the average …

Human Connexin26 gene mutations cause hearing loss. These hereditary mutations are the
leading cause of childhood deafness worldwide. Mutations in gap junction proteins …

Hearing loss is the most common sensory defect caused by heterogeneous factors. Up to
now, more than 60 mutations in genes have been documented for nonsyndromic hearing …

Objective Mutations in the GJB2 gene are a major cause of autosomal recessive non-
syndromic HL (ARNSHL) in many populations. Previous studies have estimated the average …

The crucial role of gap junctions, which are composed of connexin (CX) protein, in auditory
functions has been confirmed by numerous studies. In this study, we investigate the …

Abstract Gap junction beta 2 (GJB2) gene is the most commonly mutated connexin gene in
patients with autosomal recessive and dominant hearing loss. According to Ensembl …