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Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome
  1. P J Couckea,
  2. P Van Hauwea,
  3. L A Everettb,
  4. O Demirhanf,
  5. Y Kabakkayag,
  6. N L Dietrichb,
  7. R J H Smithe,
  8. E Coylec,
  9. W Reardond,
  10. R Trembathc,
  11. P J Willemsa,
  12. E D Greenb,
  13. G Van Campa
  1. aDepartment of Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, 2610 Antwerp, Belgium, bGenome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA, cDepartment of Genetics, University of Leicester, Adrian Building, Leicester LEI7RH, UK, dDivision of Clinical Genetics and Fetal Medicine, Institute of Child Health, University of London, UK, eDepartment of Otolaryngology, University of Iowa Hospital, Iowa City, USA, fDepartment of Medical Biology, Faculty of Medicine, University of Cukurova, 01330 Balcali-Adana, Turkey, gDepartment of Otolaryngology, Orta Dogu Private Hospital, Adana, Turkey
  1. Dr Van Camp.

Abstract

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, two affected sibs with non-consanguineous parents are compound heterozygotes for the splice site mutation and a missense mutation (1558T→G), substituting an evolutionarily conserved amino acid. The latter mutation has been found previously in two Pendred families originating from The Netherlands, indicating that the 1558T→G mutation may be a common mutation.

  • PDS gene
  • Pendred syndrome

https://doi.org/10.1136/jmg.36.6.475

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