Hearing loss is the most common sensory defect in humans, affecting normal
communication in 10 percent of people aged 65 years or older. In most cases, hearing loss …

Hearing loss is the most common sensory deficit in humans with causative variants in over
140 genes. With few exceptions, however, the population-specific distribution for many of the …

Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic
origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene …

Pendred syndrome, characterized by childhood deafness and postpuberty goiter, is caused
by mutations of SLC26A4, which codes for the anion exchanger pendrin. The goal of the …

There is a worldwide interest in studying SLC26A4 mutations that are responsible for
enlarged vestibular aqueduct (EVA) in different ethnic background and populations. The …

Although recessive mutations in the anion transporter gene SLC26A4 are known to be
responsible for Pendred syndrome (PS) and nonsyndromic hearing loss associated with …

Transepithelial Cl− and HCO3− transport is critically important for the function of all epithelia
and, when altered or ablated, leads to a number of diseases, including cystic fibrosis …

This article is a review of the genes and genetic disorders that affect hearing in humans and
a few selected mouse models of deafness. Genetics is playing an increasingly critical role in …

The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a
transporter of iodide and chloride. Mutations in this gene are responsible for Pendred …

Objectives: To review the controversial aspects of the enlarged vestibular aqueduct
syndrome. Study Design: Contemporary review. Methods: A literature search using the terms …