Pendred syndrome
From Wikipedia, the free encyclopedia
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 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 after Dr Vaughan Pendred (1869-1946), the English general practitioner who first described the syndrome in 1896.
[edit] Reference
- Pendred V. Deaf-mutism and goitre. Lancet 1896;II:532.
[edit] External links
- Mendelian Inheritance in Man (OMIM) 274600 and Mendelian Inheritance in Man (OMIM) 605646
