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CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Christel Thauvin-Robinet 1 Anne Munck Frédéric Huet 2 Alix de Becdelièvre 3 Clément Jimenez 4 Guy Lalau 5 Elodie Gautier 6 Jacques Rollet Jean Flori Raphaëlle Nové-Josserand Jean-Claude Soufir Alain Haloun 7 Dominique Hubert 8 Elise Houssin Gil Bellis 9 Gilles Rault 10 Albert David 11 Laurent Janny 12 Raphaël Chiron 13 Nathalie Rives 14 Dominique Hairion Patrick Collignon 15 Antoine Valeri 16 Gilles Karsenty 17 Annick Rossi Marie-Pierre Audrézet 18 Claude Férec 18 Julie Leclerc 19 Marie Des Georges 13, 20 Mireille Claustres 20, 13 Thierry Bienvenu 21 Bénédicte Gérard 22 Pierre Boisseau 23 Faïza Cabet-Bey 24 David Cheillan 25 Delphine Feldmann 26 Christine Clavel 27 Eric Bieth 28 Albert Iron 29 Brigitte Simon-Bouy 30 Vincent Izard Julie Steffann 31 Stéphane Viville 32 Catherine Costa 33 Véronique Drouineaud 34 Patricia Fauque 35 Christine Binquet 6 Claire Bonithon-Kopp 6 Mike Morris Laurence Faivre 36 Michel Goossens 3 Michel Roussey 37 Emmanuelle Girodon 38
11 MLab
DRM - Dauphine Recherches en Management
Abstract : BACKGROUND: The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma. METHODS: Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.Arg117His and a second CFTR mutation referred for symptoms or family history, by all French molecular genetics laboratories, referring physicians, CF care centres and infertility clinics. RESULTS: 97% of the patients had the intronic T7 normal variant in cis with p.Arg117His. 89% patients were male, with CBAVD being the reason for referral in 76%. In 166/179 patients with available detailed clinical features, final diagnoses were: four late-onset marked pulmonary disease, 83 isolated CBAVD, 67 other CFTR-related phenotypes, including 44 CBAVD with pulmonary and/or pancreatic symptoms and 12 asymptomatic cases. Respiratory symptoms were observed in 30% of the patients, but the overall phenotype was mild. No correlation was observed between sweat chloride concentrations and disease severity. Five couples at risk of CF offspring were identified and four benefited from prenatal or preimplantation genetic diagnoses (PND or PGD). Eight children were born, including four who were compound heterozygous for p.Arg117His and one with a severe CF mutation. CONCLUSIONS: Patients with CBAVD carrying p.Arg117His and a severe CF mutation should benefit from a clinical evaluation and follow-up. Depending on the CBAVD patients' genotype, a CFTR analysis should be considered in their partners in order to identify CF carrier couples and offer PND or PGD
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https://hal.umontpellier.fr/hal-02446166
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Soumis le : lundi 20 janvier 2020 - 16:23:18
Dernière modification le : vendredi 29 mai 2020 - 07:38:03

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Christel Thauvin-Robinet, Anne Munck, Frédéric Huet, Alix de Becdelièvre, Clément Jimenez, et al.. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. Journal of Medical Genetics, BMJ Publishing Group, 2013, 50 (4), pp.220-227. ⟨10.1136/jmedgenet-2012-101427⟩. ⟨hal-02446166⟩

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