This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Genetics

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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

Create an account to add page annotations

Create a free account

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.