Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.

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Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.

Journal of medical genetics - 1 Jun 1999

Coucke P J, Van Hauwe P, Everett L A, Demirhan O, Kabakkaya Y, Dietrich N L, Smith R J, Coyle E, Reardon W, Trembath R, Willems P J, Green E D, Van Camp G

Abstract excerpt

Recently the gene responsible for Pendred syndrome (PDS) was isolated and several mutations in the PDS gene have been identified in Pendred patients. Here we report the occurrence of two different PDS mutations in an extended inbred Turkish family. The majority of patients in this family are homozygous for a splice site mutation (1143-2A-->G) affecting the 3' splice site consensus sequence of intron 7. However,...

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Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.

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