Sensorineural hearing defect and goiter are common features of Pendred's syndrome. The
clinical diagnosis of Pendred's syndrome remains difficult because of the lack of sensitivity …

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

Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by
sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic …

INTRODUCTION: Mutations in PDS (or SLC26A4) cause both Pendred syndrome (PS) and
DFNB4, two autosomal recessive disorders that share hearing loss as a common feature. PS …

Patients with PS or non-syndromic deafness were submitted to genetic/functional analyzes
of SLC26A4, of its binding domain for FOXI1 (FOXI1-DBD), of the transcription activator …

Pendred syndrome (PS) is the most common cause of syndromic deafness, accounting for
more than 5% of all autosomal-recessive hearing loss cases. It is characterized by bilateral …

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

Pendrin is a transmembrane chloride/anion exchanger highly expressed in thyroid, kidney,
and inner ear. Endoplasmic reticulum (ER)-retention of improperly folded Pendrin mutants is …

Molecular diagnosis makes a substantial contribution to precise diagnosis, subclassification,
prognosis, and selection of therapy. Mutations in the PDS (SLC26A4) gene are known to be …

Abstract Pendrin (SLC26A4) is an anion exchanger that mediates bicarbonate (HCO3−)
exchange for chloride (Cl−) and is crucial for maintaining pH and salt homeostasis in the …