Background: Malfunction of the SLC26A4 protein leads to prelingual deafness often
associated with mild thyroid dysfunction and goiter. It is assumed that SLC26A4 acts as a …

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 …

The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes
for the anion exchanger pendrin, are population-specific and account for at least 50% of …

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …

Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia.
Patients with SLC26A4 mutations have variable phenotypes ranging from non‐syndromic …

Hearing loss is a well-known clinical sign in the context of pendrin malfunction. Pendred
syndrome (PS) and nonsyndromic hearing loss (DFNB4) with enlarged vestibular aqueduct …

Thanks to the advent of rapid DNA sequencing technology and its prevalence, many
disease‐associated genetic variants are rapidly identified in many genes from patient …

Pendred syndrome (PS) is the most frequent form of genetically related syndromic hearing
loss, and is associated with mutations of pendrin, encoded by the SLC26A4 gene. This …

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 …

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 …