Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear
malformations in hearing loss patients including Pendred syndrome. While biallelic …

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

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 …

Enlargement of the vestibular aqueduct (EVA) is a common inner ear malformation found in
children with sensorineural hearing loss that is frequently associated with loss-of-function or …

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

Genomic technology has completely changed the way in which we are able to diagnose
human genetic mutations. Genomic techniques such as the polymerase chain reaction …

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

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 …

Mutations in human SLC26A4 are a common cause of hearing loss associated with
enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger …

Objective To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of
mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with …