Abstract [eng] The SLC26A4 gene encodes a protein (pendrin, SLC26A4), which is essential
for the proper development and function of the inner ear. SLC26A4 sequence alterations …

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 …

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 …

Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (EVA) are two
recessive disorders characterized by the association of sensorineural hearing loss (SNHL) …

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 …

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

Objective Mutations in the SLC26A4 gene cause both Pendred syndrome and autosomal
recessive nonsyndromic hearing loss (ARNSHL) at the DFNB4 locus. The SLC26A4 …

In the USA, 50% of congenital sensorineural hearing loss (SNHL) is due to genetic factors,
and the remaining 50% is due to environmental factors. Of the congenital SNHL caused by …

Objective: Mutations in the SLC26A4 gene cause both Pendred syndrome and autosomal
recessive nonsyndromic hearing loss (ARNSHL) at the DFNB4 locus. The SLC26A4 …

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