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 …

Latin America comprises all countries from South and Central America, in addition to
Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic …

Hearing loss (HL) is a common genetically heterogeneous sensory disorder, occurring in 1
to 3 per 1000 live births. In spite of the extraordinary genetic heterogeneity, variants in GJB2 …

Genetic variants in GJB 2 and GJB 6 genes are the most frequent causes of hereditary
hearing loss among several deaf populations worldwide. Molecular diagnosis enables …

Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major
cause of hearing impairment (HI). More than 300 allelic variants have been identified in the …

There is, at present, no curative treatment for genetic hearing loss. We have previously
reported that transuterine gene transfer of wild type CONNEXIN30 (CX30) genes into …

Aim: Mutations in the gap junction protein beta 2 (GJB2) gene are responsible for more
cases of nonsyndromic recessive hearing loss than any other gene. The purpose of our …

Genetic defects are a major cause of hearing loss in newborns. Consequently, hearing loss
has a profound negative impact on human daily living. Numerous causative genes for …

Mutations in the GJB2 gene are known to be a major cause of autosomal recessive
deafness 1A (OMIM 220290). The most common pathogenic variants of the GJB2 gene have …

Introduction: Despite the high genetic heterogeneity of hearing loss, mutations in the GJB2
gene are a major cause of autosomal recessive nonsyndromic hearing loss (NSHL) …