Short report
Identification of two different mutations in the PDS gene in an
inbred family with Pendred syndrome
P J Couckea, P Van Hauwea, L A Everettb, O Demirhanf, Y Kabakkayag, N L Dietrichb, R J H Smithe, E Coylec, W Reardond, R Trembathc, P J Willemsa, E D Greenb, G Van Campa
a Department of
Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, 2610 Antwerp, Belgium, b Genome Technology
Branch, National Human Genome Research Institute, National Institutes
of Health, Bethesda, Maryland 20892, USA, c Department of
Genetics, University of Leicester, Adrian Building, Leicester LEI7RH,
UK, d Division
of Clinical Genetics and Fetal Medicine, Institute of Child Health,
University of London, UK, e Department of Otolaryngology, University of Iowa
Hospital, Iowa City, USA, f Department of Medical Biology, Faculty of
Medicine, University of Cukurova, 01330 Balcali-Adana, Turkey, g Department of Otolaryngology, Orta Dogu
Private Hospital, Adana, Turkey
Correspondence to: Dr Van Camp.
Received 27 August
1998;
Revised version accepted for publication 15 December 1998
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 (1558TG), substituting an evolutionarily conserved amino
acid. The latter mutation has been found previously in two Pendred
families originating from The Netherlands, indicating that the
1558TG mutation may be a common mutation.
Keywords: PDS gene; Pendred syndrome
© 1999 by J Med Genet
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