The estimated prevalence of permanent bilateral hearing loss (HL) in children is 1.33 per
1000 live births, increasing to 3.5 per 1000 adolescents, presumably reflecting additional …

Abstract Pendrin (SLC26A4) is an anion exchanger expressed in the apical membranes of
selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder …

Band 3 contains 14 transmembrane segments arranged in a 7+ 7 transmembrane inverted
repeat topology common to all members of the SLC4 family and the unrelated SLC26 anion …

Screening pathogenic variants in the SLC26A4 gene is an important part of molecular
genetic testing for hearing loss (HL) since they are one of the common causes of hereditary …

Background Mutations in the SLC26A4 gene are associated with Pendred syndrome and
autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar …

Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL),
characterized by sensorineural HL, inner ear malformations, and goiter, with or without …

Background To investigate the genetic causes of hearing loss in patients with enlarged
vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed …

The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in
determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal …

Objective We aimed to evaluate the genotype–phenotype relationship in two Chinese family
members with enlarged vestibular aqueduct (EVA). Methods We collected blood samples …

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) …