Pendred syndrome
Autosomal recessive with both seemingly normal parents carrying a copy of the Pendred syndrome (PDS) gene and each of their children having a 1 in 4 (25%) risk of inheriting both parental PDS genes and suffering from the syndrome.
Pendred syndrome was clinically recognized and concisely described in 1896 by the English general practitioner Vaughan Pendred (1869-1946). Exactly a century later, the gene for Pendred syndrome was discovered (by Coyle and Sheffield and colleagues) to be on chromosome 7q. From the syndrome to the gene from 1896-1996!
Pendred syndrome is also known as deafness with goiter, the goiter-deafness syndrome, and now (thanks to molecular medicine) thyroid hormone organification defect IIb.
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