Hearing impairment is the most common sensory disorder, present in 1 of every 500
newborns. With 46 genes implicated in nonsyndromic hearing loss, it is also an extremely …

Despite the enormous heterogeneity of genetic hearing loss, variants in one locus, Gap
Junction Beta 2 or GJB2 (connexin 26), account for up to 50% of cases of nonsyndromic …

Pendred syndrome is a recessively inherited disorder with the hallmark features of
congenital deafness and thyroid goitre. By some estimates, the disorder may account for …

Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common
form of genetic hearing loss. Previous studies defined at least 15 human NSRD loci …

Nonsyndromic hearing impairment is one of the most heterogeneous hereditary conditions,
with more than 40 loci mapped on the human genome 1, however, only a limited number of …

Background Hearing impairment affects one infant in 1000 and 4% of people aged younger
than 45 years. Congenital deafness is inherited or apparently sporadic. We have shown …

Background Mutations in the GJB2 gene cause one form of nonsyndromic recessive
deafness. Among Mediterranean Europeans, more than 80 percent of cases of …

Mutations in the connexin 26 (Cx26) gene (GJB2) are associated with the type of autosomal
recessive nonsyndromic neurosensory deafness known as" DFNB1." Studies indicate that …

Hearing loss involves both genetic and environmental factors. A mutation (A1555G) in the
mtDNA has been associated with aminoglycoside-induced and nonsyndromic sensorineural …

The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic
diagnosis expensive and time consuming using available methods. To assess the feasibility …