Objectives/Hypothesis To perform a systematic review of GJB2‐associated hearing loss to
describe genotype distributions and auditory phenotype. Data Sources 230 primary studies …

Gap junctions allow the exchange of ions and small molecules between adjacent cells
through intercellular channels formed by connexin proteins, which can also form functional …

Tsukada K, Nishio S, Usami S, and the Deafness Gene Study Consortium. A large cohort
study of GJB2 mutations in Japanese hearing loss patients. GJB2 is the gene most …

Mutations in the gene encoding the gap junction protein connexin 26 (GJB2) and connexin
30 (GJB6) have been shown to be a major contributor to prelingual, sensorineural …

Mutations in GJB2 and GJB6 genes are the main causes of autosomal recessive
nonsyndromic hearing loss (ARNSHL) in many populations. Here, we investigated GJB2 …

Objective: Mutations in Gap Junction Beta 2 (GJB2)(the gene encoding the protein Connexin
26) have been found to be a major cause of non‐syndromic sensorineural recessive …

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 …

Hearing impairment (HI) is the most frequent sensory disorder, with a genetic etiology in>
50% of all cases, due to mutations in> 44 identified genes. Autosomal recessive inheritance …

Hearing loss is the most common sensory defect in the world. The genetic basis of this
condition is very complex. Molecular variations in GJB2 gene are the common cause of …

Most nonsyndromic hearing losses are caused by mutations in the GJB2 gene, and studies
have revealed that the forms and frequencies of these mutations are largely dependent on …