Asymptomatic carrier of two CFTR mutations: Consequences for prenatal diagnosis? |
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| Authors: | C Verlingue A David M P Audrezet M G Le Roux B Mercier J P Moisan C Ferec MD PhD |
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| Institution: | 1. Centre de Biogénétique, Centre Départemental de Transfusion Sanguine, BP 454, 29275 Brest Cedex, France;2. Service de Génétique Médicale, Centre Hospitalier Universitaire, Quai Moncousu, BP 1005, 44035 Nantes Cedex 01, France;3. Laboratoire de Génétique Moléculaire, Centre Hospitalier Unvtersitaire, Quai Moncousu, BP 1005, 44035 Nantes Cedex 01, France |
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| Abstract: | The cystic fibrosis (CF) gene has been observed to have the highest frequency of mutations in the Caucasian population. Prenatal diagnosis can now be performed with a high degree of accuracy since the identification of most of the gene's mutations, as well as the characterization of intragenic markers. However, the observation of a distribution of clinical phenotypes increases the need to identify a mild phenotype and avoid false-negative diagnosis. By screening most of the exons of the CFTR gene, we showed that a supposed obligate carrier of CF was in fact an asymptomatic affected woman. |
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| Keywords: | Cystic fibrosis Prenatal diagnosis Genetic counselling DGGE |
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