The implementation of universal screening programs to detect hearing defects in newborns
has dramatically increased the identification of hearing loss in infants. Recent advances in …

During the past three to four decades, the incidence of acquired sensorineural hearing loss
(SNHL) in children living in more developed countries has fallen, as a result of improved …

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

Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common
congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in …

Background Mutations in GJB2 are the most common molecular defects responsible for
autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this …

Non‐syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …

Eur J Clin Invest 2010; 41 (1): 103–116 Abstract Background Connexins are a family of
transmembrane proteins that are widely expressed in the human body. Connexins play an …

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 …

Inherited diseases caused by connexin mutations are found in multiple organs and include
hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin …

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 …