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: Mutations in the SLC26A4 gene are responsible for Pendred syndrome and
non-syndromic hearing loss (DFNB4). This study analysed non-synonymous SLC26A4 …

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 …

The intercalated cell Cl−/HCO3− exchanger, pendrin, modulates ENaC subunit abundance
and function. Whether ENaC modulates pendrin abundance and function is however …

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter and a partial defect in iodide organification. Goiter development and …

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 …

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 Pendred's syndrome (OMIM 274600) is an autosomal recessive disorder defined by
the triad of congenital deafness, goiter, and a partial defect in iodide organification. Under …

Ion transporters are the molecular basis for ion homeostasis of the cell and the whole
organism. The anion exchanger pendrin is only one of a number of examples where a …

Mutations in the SLC26A4 gene, which encodes pendrin, cause congenital hearing loss as
a manifestation of Pendred syndrome (PS) with an iodide organification defect or …