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A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

Abstract : BACKGROUND: The identification by CFTR mRNA studies of a new deep-intronic splicing mutation, c.870-1113_1110delGAAT, in one patient of our series with mild CF symptoms and in three CF patients of an Italian study, led us to evaluate the mutation frequency and phenotype/genotype correlations. METHODS: 266 patients with CF and related disorders and having at least one undetected mutation, were tested at the gDNA level in three French reference laboratories. RESULTS: In total, the mutation was found in 13 unrelated patients (5% of those already carrying a mutation) plus 4 siblings, including one homozygote and 12 heterozygotes having a severe CF mutation. The sweat test was positive in 10/14 documented cases, the diagnosis was delayed after 20 years in 9/15 and pancreatic insufficiency was present in 5/16. CONCLUSION: c.870-1113_1110delGAAT should be considered as CF-causing with phenotype variability and overall delayed diagnosis. Its frequency highlights the potential of mRNA studies.
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https://hal.umontpellier.fr/hal-02446238
Contributeur : Karine Deletang <>
Soumis le : lundi 20 janvier 2020 - 16:53:16
Dernière modification le : mardi 22 septembre 2020 - 03:55:35

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Catherine Costa, Virginie Prulière-Escabasse, Alix de Becdelièvre, Christine Gameiro, Lisa Golmard, et al.. A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice. Journal of Cystic Fibrosis, Elsevier, 2011, 10 (6), pp.479-482. ⟨10.1016/j.jcf.2011.06.011⟩. ⟨hal-02446238⟩

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