Article
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
American journal of medical genetics - 3 Jan 2000
Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel A M, Elgaied-Boulila A, Drira M, Hardelin J P, Ayadi H
Abstract excerpt
Pendred syndrome comprises congenital sensorineural hearing loss, thyroid goiter, and positive perchlorate discharge test. Recently, this autosomal recessive disorder was shown to be caused by mutations in the PDS gene, which encodes an anion transporter called pendrin. Molecular analysis of the PDS gene was performed in two consanguineous large families from Southern Tunisia comprising a total of 23 individuals...
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