Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent
chronic conditions in children. In the majority of developed countries, neonatal hearing …

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 …

Abstract Disclaimer: These ACMG Standards and Guidelines were developed primarily as
an educational resource for clinical laboratory geneticists to help them provide quality …

Sáez, Juan C., Viviana M. Berthoud, María C. Brañes, Agustín D. Martínez, and Eric C.
Beyer. Plasma Membrane Channels Formed by Connexins: Their Regulation and Functions …

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

Using a candidate gene approach, we identified a novel human gene, OTOF, underlying an
autosomal recessive, nonsyndromic prelingual deafness, DFNB9. The same nonsense …

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

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 …