Objectives To investigate the genetic causes of hearing loss with enlarged vestibular
aqueduct (EVA) in two children from unrelated two Chinese families. Methods Sanger …

The SLC26A4 gene has been described as the second gene involved in most cases of
sensorineural non-syndromic hearing loss, since the first is the GJB2 gene. Recessive …

Mutations in SLC26A4, which encodes pendrin, are responsible for hearing loss with an
enlarged vestibular aqueduct and Pendred syndrome. The most prevalent mutation in East …

Background: Human pendrin (SLC26A4, PDS) is an integral membrane protein acting as an
electroneutral anion exchanger. Loss of function mutations in pendrin protein cause …

Pendred syndrome is an autosomal recessive disorder characterized by congenital
sensorineural deafness, goitre and defective iodide organification. Congenital and profound …

Pendred's syndrome (PS) is an autosomal recessive disorder characterized by deafness
and goiter, which are caused by mutations in the Pendred's syndrome gene (PDS). PDS …

Abstract SLC26A4/PDS mutations cause Pendred Syndrome and non-syndromic deafness.
but some aspects of function and regulation of the SLC26A4 polypeptide gene product …

A Chinese family was identified with clinical features of enlarged vestibular aqueduct
syndrome (EVAS). The mutational analysis showed that the proband (III-2) had EVAS with …

Pendred syndrome (PS) is an autosomal recessive disorder characterized by congenital
bilateral sensorineural hearing loss, goiter, and incomplete iodide organification. Patients …

Objective: To detect genetic cause of two Chinese siblings (patient 1 and 2) with Pendred
syndrome. Design: Patients and their parents underwent clinical and genetic evaluations. To …