Mutations in human SLC26A4 are a common cause of hearing loss associated with
enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger …

Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the
prevalence of different HL forms significantly varies among populations worldwide …

Hearing impairment is one of the commonest clinical conditions. It has been estimated that
approximately 1 in 10 persons has hearing concerns. Further epidemiological studies have …

Long-term hearing threshold-on-age follow-up data, including non-linear regression
analysis, are given for 12 consecutive Pendred patients. The clinical diagnosis of Pendred's …

Context: Enlargement of the vestibular aqueduct (EVA) is a commonly detected inner ear
anomaly related to hearing loss and often associated with mutations of SLC26A4 encoding …

Almost uniquely among syndromic forms of deafness, Pendred syndrome has been the
subject of wide rangingepidemiological study indicating that it may account for up to 7.5% of …

Inherited causes account for about 50% of Individuals presenting with childhood (prelingual)
hearing loss, of which 70% are due to mutation in numerous single genes which impair …

Abstract Pendrin (SLC26A4, PDS) is an electroneutral anion exchanger transporting I-, Cl-,
HCO3-, OH-, SCN-and formate. In the thyroid, pendrin is expressed at the apical membrane …

Abstract Rationale: Mutations of SLC26A4 that abrogate pendrin, expressed in
endolymphatic sac, cochlea and vestibule, are known to cause autosomal recessive …

The human gene SLC26A4 and the mouse ortholog Slc26a4 code for the protein pendrin,
which is an anion exchanger expressed in apical membranes of selected epithelia. In the …