Malfunction of the SLC26A4 protein leads to Pendred syndrome, characterized by
sensorineural hearing loss, often associated with mild thyroid dysfunction and goiter. It is …

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 …

Abstract Objective The SLC26A4 protein (pendrin) seems to be involved in the exchange of
chloride with other anions, therefore being responsible for iodide organification in the thyroid …

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 …

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

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 …

Abstract Pendrin (SLC26A4, PDS) is an electroneutral anion exchanger transporting I-, Cl-,
HCO3-, OH-, SCN-and formate. In the thyroid, pendrin is expressed at the apical membrane …

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 …

Mutations in SLC26A4 can cause deafness and goiter in Pendred syndrome (PDS) or
isolated non-syndromic enlargement of the vestibular aqueduct (NSEVA). PDS is one of the …

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 …