Background Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin,
are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some …

Purpose: Mutations in the SLC26A4 gene are second only to GJB2 mutations as a currently
identifiable genetic cause of sensorineural hearing loss. In most areas of China, genetic …

Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia.
Patients with SLC26A4 mutations have variable phenotypes ranging from non‐syndromic …

Objectives The genetics of sensorineural hearing loss is characterized by a high degree of
heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been …

In order to investigate the genetic causes of hearing loss in a Chinese proband (in Family A)
with enlarged vestibular aqueduct (EVA) and to investigate the genotype of two Chinese …

Objective To investigate the hot spot mutation of SLC26A4 gene and its incidence among
patients with moderate to profound sensorineural hearing loss (SNHL) and to analyze the …

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

Background Gene variants are responsible for more than half of hearing loss, particularly in
nonsyndromic hearing loss (NSHL). The most common pathogenic variant in SLC26A4 …

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 …

Objectives To identify second-allele variant in infants with a known single-allele mutation of
the SLC26A4 gene and to determine the frequency of their occurrence; and to investigate …