Objective: The mutation spectrum of the GJB2 and SLC26A4 genes, the 2 most common
genes causing deafness, are known to be ethnic specific. In this study, the spectrum of the …

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter and a partial defect in iodide organification. Goiter development and …

Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged
vestibular aqueduct (EVA, also known as DFNB4) and Pendred syndrome (PS), the most …

Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …

Mutations in SLC26A4 cause a broad phenotypic spectrum, from typical Pendred syndrome
to nonsyndromic hearing loss associated with enlarged vestibular aqueduct. Identification of …

Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in
500 people experiencing some form of severe hearing loss. While over 400 different …

Hearing impairments are the most common symptom of congenital defects, and they
generally remain intractable to treatment. Pendred syndrome, the most frequent syndromic …

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …

Enlargement of the vestibular aqueduct (EVA) is one of the most common inner ear
malformations associated with sensorineural hearing loss in children. The delayed onset …

Pendrin and prestin are evolutionary-conserved membrane proteins that are essential for
normal hearing. Dysfunction of these proteins results in hearing loss in humans, and …