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Genetics

Authoring team

The gene for Pendred's syndrome is found on chromosome 7 and codes for the protein Pendrin which was predicted to be a sulphate transporter.

  • the novel gene SLC26A4 (PDS) coding for a protein 'pendrin' initially thought to function as a sulfate transporter is responsible for the syndrome (2)
    • subsequent studies excluded sulfate transport activity and suggested that the protein functions as a membrane-bound chloride-iodine transporter

Reference:

  • 1) Kopp, P. (1999). Pendred's syndrome: identification of the genetic defect a century after its recognition. Thyroid, 9, 65-69.
  • 2) Kasper DL, Braunwald E, Fauci AS, Hauser SL, Longo DL, Jameson JL (2005) Harrison's principles of internal medicine, 16th edn., vol. 2. Mcgraw-Hill Medical Publishing, New York, p 2105

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