394delTT: a Nordic cystic fibrosis mutation |
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| Authors: | Marianne Schwartz Maria Anvret Mireille Claustres Hans Geir Eiken Kristin Eiklid Charlotte Schaedel Lisa Stolpe Lisbeth Tranebjærg |
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| Institution: | (1) Section of Clinical Genetics, Department of Paediatrics, Rigshospitalet, Copenhagen, Denmark;(2) Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden;(3) INSERM U249, College of Medicine, Montpellier, France;(4) Department of Medical Genetics, Haukeland Hospital, Bergen, Norway;(5) Department of Medical Genetics, Ullevål University Hospital, Blindern, Oslo, Norway;(6) Department of Paediatrics, University Hospital, Lund, Sweden;(7) Department of Medical Genetics, Regional Hospital, Tromsø, Norway;(8) Section of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK-2100 Copenhagen, Denmark |
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| Abstract: | In a systematic screening for mutations in the gene encoding the cystic fibrosis transmembrane regulator among Danish cystic fibrosis (CF) patients, we identified a mutation in exon 3 (394delTT); this mutation was found to be relatively common in Denmark. We therefore screened for 394delTT in Sweden and Norway, where it turned out to be the second most frequent mutation, accounting for 4% of all CF mutations. It also occurs with a high frequency in Finland, but has not been found in larger surveys of mutations in the CFTR gene. Thus, 394delTT seems to be a specific Nordic CF mutation. |
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