Science Fair Project Encyclopedia
Pendred syndrome
Pendred syndrome or Pendred disease is a genetic disorder leading to sensorineural hearing loss and goitre with occasional hypothyroidism. It inherits in an autosomal recessive manner. It may account for 1-10% of all inherited causes of deafness.
It has been linked to mutations in the PDS gene, which codes for the pendrin protein (solute carrier family 26, member 4, SLC26A4). The gene is located on the seventh chromosome (7q31). Mutations in the same gene also cause enlarged vestibular aqueduct syndrome , another congenital cause of deafness.
The disease is named after Dr Vaughan Pendred (1869-1946), the English general practicioner who first described the syndrome in 1896.
Reference
- Pendred V. Deaf-mutism and goitre. Lancet 1896;II:532.
External links
10-26-2009 08:16:03
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The contents of this article is licensed from www.wikipedia.org under the GNU Free Documentation License. Click here to see the transparent copy and copyright details