p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-08-18

AUTHORS

Céline 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

ABSTRACT

Among 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... »

PAGES

36-42

Journal

TITLE

European Journal of Human Genetics

ISSUE

1

VOLUME

19

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2010.137

DOI

http://dx.doi.org/10.1038/ejhg.2010.137

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1041961682

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20717170


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