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 …

Objectives To identify mutations in theSLC26A4gene in individuals with nonsyndromic
hearing loss and enlarged vestibular aqueduct, to design a predicted model of the pendrin …

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

Genetic testing can provide an accurate diagnosis, contributing to appropriate treatment,
prognosis and precise genetic counseling for patients with hearing loss. It is estimated that …

The human gene SLC26A4 and the mouse ortholog Slc26a4 code for the protein pendrin,
which is an anion exchanger expressed in apical membranes of selected epithelia. In the …

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 …

Abstract In 1896, Vaughan Pendred, MD, wrote a case report about two siblings that
presented with hearing loss and goiter. This initial report was followed over the next 100 …

Background Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin,
are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some …

Abstract Rationale: Mutations of SLC26A4 that abrogate pendrin, expressed in
endolymphatic sac, cochlea and vestibule, are known to cause autosomal recessive …