Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with
enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 …

Objective Pendrin is a transmembrane protein encoded by the SLC26A4 gene that functions
in maintaining ion concentrations in the endolymph of the inner ear, most likely by acting as …

Objective: Hearing loss (HL) is a common sensory deficit with high phenotypic and
genotypic heterogeneity. A large Iranian family with HL was genetically assessed in this …

Sequence alterations in the pendrin gene (SLC26A4) leading to functionally affected protein
variants are frequently involved in the pathogenesis of syndromic and nonsyndromic …

Background Pendred syndrome, a common autosomal-recessive disorder characterized by
congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for …

Loss-of-function mutations of SLC26A4/pendrin are among the most prevalent causes of
deafness. Deafness and vestibular dysfunction in the corresponding mouse model …

Objective: To investigate the mechanism of the deafness-causing mutation S448X in the
pendrin protein through measurement of the expression levels and functional activities of the …

Pendrin mutations cause enlarged vestibular aqueducts and various degrees of
sensorineural hearing loss. The selective abolition of pendrin causes dilation of the …

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 results from bi-allelic pathogenic variants in the SLC26A4 gene and is
characterized by sensorineural deafness and a partial thyroid iodine organification defect …