We report two families in whom the index cases satisfied the classical diagnostic criteria of
Pendred's syndrome. In family I, two siblings were deaf, and one was normal. In family II …

Pendred syndrome and the enlarged vestibular aqueduct (EVA) are considered phenotypic
variations of the same entity due to mutations in the SLC26A4 (pendrin) gene. Pendred …

Pendred syndrome is an autosomal recessive disorder characterized by early childhood
deafness and goiter. A century after its recognition as a syndrome by Vaughan Pendred, the …

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

Objective Mutations in the SLC26A4 gene cause both Pendred syndrome and autosomal
recessive nonsyndromic hearing loss (ARNSHL) at the DFNB4 locus. The SLC26A4 …

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 …

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 …

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 …

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 …

Inherited as an autosomal recessive trait, Pendred syndrome is a disease that shows
congenital sensorineural hearing loss and goiter, with a positive finding in the perchlorate …