SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic
sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome (PDS) …

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

SLC26A4 mutations are common cause of congenital hearing loss in East Asia. The carrier
frequency of SLC26A4 mutations is 1 in 75 in Korean populations. The SLC26A4 mutation …

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 …

Background: Heterozygous mutations in GJB2 (MIM: 121011) encoding the gap junction
protein connexin 26 are overrepresented in patient groups suffering from nonsyndromic …

Abstract Pendrin (SLC26A4, PDS) is an electroneutral anion exchanger transporting I-, Cl-,
HCO3-, OH-, SCN-and formate. In the thyroid, pendrin is expressed at the apical membrane …

Pendred syndrome is an autosomal‐recessive disorder characterized by congenital
sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of …

Recessive variants of the SLC26A4 gene are an important cause of hereditary hearing
impairment. Several transgenic mice with different Slc26a4 variants have been generated …

Objectives The aim of this study was to detect the genetic cause of deafness in a large
Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about …

OBJECTIVE: Pendred syndrome is one of the most common hereditary determined diseases
in patients with syndromic sensorineural hearing impairment. Mutations in the SLC26A4 …