Pendred syndrome

Pendred syndrome or Pendred disease is a genetic disorderleading to sensorineural hearing lossand goitrewith occasional hypothyroidism. It inherits in an autosomal recessivemanner. It may account for 1-10% of all inherited causes of deafness.

It has been linked to mutationsin the PDS gene, which codes for the pendrin protein (solute carrier family 26, member 4, SLC26A4). The gene is located on the long arm of chromosome 7(7q31). Mutations in the same gene also cause enlarged vestibular aqueduct syndrome, another congenital cause of deafness.

The disease is named afterDr Vaughan Pendred (1869-1946), the English general practitionerwho first described the syndrome in 1896.

Reference

• Pendred V. Deaf-mutism and goitre. Lancet1896;II:532.

External links

• OMIM274600and OMIM605646

This article is licensed under the GNU Free Documentation License.
It uses material from the http://en.wikipedia.org/wiki/Pendred+syndrome Wikipedia article Pendred syndrome.