Ontology type: schema:ScholarlyArticle Open Access: True
2010-08-18
AUTHORSCéline René, Damien Paulet, Emmanuelle Girodon, Catherine Costa, Guy Lalau, Julie Leclerc, Faïza Cabet-Bey, Thierry Bienvenu, Martine Blayau, Albert Iron, Hervé Mittre, Delphine Feldmann, Caroline Guittard, Mireille Claustres, Marie des Georges
ABSTRACTAmong the 1700 mutations reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a missense mutation, p.Ser1235Arg, is a relatively frequent finding. To clarify its clinical significance, we collected data from 104 subjects heterozygous for the mutation p.Ser1235Arg from the French CF network, addressed for various indications including classical CF, atypical phenotypes or carrier screening in subjects with or without a family history. Among them, 26 patients (5 having CF, 10 CBAVD (congenital bilateral absence of the vas deferens) and 11 with CF-like symptoms) and 14 healthy subjects were compound heterozygous for a second CFTR mutation. An exhaustive CFTR gene analysis identified a second mutation in cis of p.Ser1235Arg in all CF patients and in 81.8% CBAVD patients. Moreover, epidemiological data from >2100 individuals found a higher frequency of p.Ser1235Arg in the general population than in CF or CBAVD patients. These data, added to the fact that in silico analysis and functional assays suggest a benign nature of this substitution, give several lines of evidence against an association of p.Ser1235Arg with CF or CBAVD. More... »
PAGES36-42
http://scigraph.springernature.com/pub.10.1038/ejhg.2010.137
DOIhttp://dx.doi.org/10.1038/ejhg.2010.137
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/20717170
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