Pendred syndrome is a major cause of congenital deafness, goiter and defective iodide
organification. Mutations in the transmembrane protein, pendrin, cause diminished export of …

Sensorineural hearing defect and goiter are common features of Pendred's syndrome. The
clinical diagnosis of Pendred's syndrome remains difficult because of the lack of sensitivity …

METHODS Subjects Our subjects consisted of 39 affected subjects with EVA and their
unaffected relatives from 31 families. A total of 84% of these families were Caucasian …

Abstract Background Enlarged Vestibular Aqueduct (EVA) is one of the most common
congenital malformations associated with sensorineural or mixed hearing loss. The …

Fourteen patients with a Pendred syndrome gene (Pds) mutation and three patients without
the mutation were studied to evaluate long-term vestibular and auditory manifestations …

This paper presents the current views, regarding the pathomechanisms, which lead to the
development of pathological symptoms in the enlargement of the vestibular aqueduct …

Pendred syndrome (PS) is characterized by autosomal recessive inheritance of goiter
associated with a defect of iodide organification, hearing loss, enlargement of the vestibular …

Objective. Pendrin is encoded by SLC26A4, which is expressed in the apical membrane of
inner ear epithelial cells and drives chloride reabsorption in the apical septum. In the inner …

Mutations of SLC26A4 are a common cause of human hearing loss associated with
enlargement of the vestibular aqueduct. SLC26A4 encodes pendrin, an anion exchanger …

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 …