Pendrin, first identified in 1997, belongs to a superfamily of anion transporters localized in
the thyroid gland, inner ear and kidney. Immunohistochemical studies have shown that …

Objectives To identify mutations in theSLC26A4gene in individuals with nonsyndromic
hearing loss and enlarged vestibular aqueduct, to design a predicted model of the pendrin …

Background Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin,
are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some …

Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness,
goiter and a partial defect in the organification of iodide. It is caused by biallelic mutations in …

Background Pendred syndrome is often associated with inner ear malformations, especially
enlarged vestibular aqueduct (EVA). Recently, mutations in the Pendred syndrome gene …

Sensorineural hearing defect and goiter are common features of Pendred's syndrome. The
clinical diagnosis of Pendred's syndrome remains difficult because of the lack of sensitivity …

Pendrin is an anion transporter encoded by the PDS/Pds gene. In humans, mutations in
PDS cause the genetic disorder Pendred syndrome, which is associated with deafness and …

The SLC26A4 gene has been described as the second gene involved in most cases of
sensorineural non-syndromic hearing loss, since the first is the GJB2 gene. Recessive …

Mutations in the anion exchanger pendrin are responsible for Pendred syndrome, an
autosomal recessive disease characterized by deafness and goitre. Pendrin is highly …

Background Mutations in SLC26A4, which encodes pendrin, are a common cause of
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …