Caractéristiques cliniques et moléculaires du syndrome de Pendred

Translated title of the contribution: Clinical and molecular characteristics of Pendred syndrome

P. Kopp*, A. Bizhanova

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness, goiter and a partial defect in the organification of iodide. It is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a multifunctional anion exchanger. At the level of the inner ear, pendrin is important for the creation of a normal endolymph composition and the maintenance of the endocochlear potential. In the thyroid, pendrin is expressed at the apical membrane of thyroid follicular cells and it appears to be involved in mediating iodide efflux into the lumen and/or maintenance of the follicular pH. Goiter development and hypothyroidism vary among affected individuals and seem to be partially dependent on nutritional iodide intake. In the kidney, pendrin functions as a chloride/bicarbonate exchanger. Elucidation of the molecular basis of Pendred syndrome and the function of pendrin has provided unexpected novel insights into the pathophysiology of the inner ear, thyroid hormone synthesis, and chloride/bicarbonate exchange in the kidney.

Translated title of the contributionClinical and molecular characteristics of Pendred syndrome
Original languageFrench
Pages (from-to)88-94
Number of pages7
JournalAnnales d'Endocrinologie
Volume72
Issue number2
DOIs
StatePublished - Apr 1 2011

Keywords

  • Deafness
  • Goiter
  • Pendred syndrome
  • Pendrin
  • SLC26A4
  • Thyroid hormone

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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