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 …

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

It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness
characterized by congenital sensorineural hearing impairment and goitre (Pendred's …

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 …

Due to development of molecular techniques at hand, the number of genomic sequence
variants detected in patient investigations is rising constantly. The number of potentially …

Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …

Mutations in the SLC26A4 gene can cause both Pendred syndrome and nonsyndromic
enlargement of the vestibular aqueduct, two conditions associated with sensorineural …

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 …

Mutations in SLC26A4 cause Pendred syndrome (PS) and a non syndromic deafness
associated with the enlargement of the vestibular aqueduct (LVAS). In many patients with a …

Background: Pendrin is a transport protein exchanging chloride for other anions, such as
iodide in the thyroid gland or bicarbonate in the inner ear. Mutations in the SLC26A4 gene …