Abstract Human pendrin (SLC26A4) is an anion transporter mostly expressed in the inner
ear, thyroid and kidney. SLC26A4 gene mutations are associated with a broad phenotypic …

For over 100 years after the first description of the disorder, the molecular pathology
underlying the deafness and thyroid pathology in Pendred syndrome (PS) remained …

The pendrin gene (SLC26A4) was initially identified through the positional cloning in
patients with Pendred syndrome, a heritable recessive genetic disorder (MIM# 274600) …

Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …

Pendred's syndrome (PS) is an autosomal recessive disorder characterized by deafness
and goiter, which are caused by mutations in the Pendred's syndrome gene (PDS). PDS …

Mutations of SLC26A4 cause an enlarged vestibular aqueduct, nonsyndromic deafness, and
deafness as part of Pendred syndrome. SLC26A4 encodes pendrin, an anion exchanger …

The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the
homeostasis of the ion concentration of the endolymph of the inner ear, most likely by acting …

Mutations in the SLC26A4 gene, which encodes pendrin, cause congenital hearing loss as
a manifestation of Pendred syndrome (PS) with an iodide organification defect or …

Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear
malformations in hearing loss patients including Pendred syndrome. While biallelic …

Background: Pendrin is a transport protein exchanging chloride for other anions, such as
iodide in the thyroid gland or bicarbonate in the inner ear. Mutations in the SLC26A4 gene …