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CFTR genotypes in patients with normal or borderline sweat chloride levels
Author(s) -
Feldmann Delphine,
Couderc Remy,
Audrezet MariePierre,
Ferec Claude,
Bienvenu Thierry,
Desgeorges Marie,
Claustres Mireille,
Mittre Hervé,
Blayau Martine,
Bozon Dominique,
Malinge MarieClaire,
Monnier Nicole,
Bonnefont JeanPaul,
Iron Albert,
Bieth Eric,
Dumur Viviane,
Clavel Christine,
Cazeneuve Cécile,
Girodon Emmanuelle
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9183
Subject(s) - cystic fibrosis , genotype , biology , mutation , allele , sweat , sweat test , phenotype , medicine , mutant , endocrinology , genetics , gastroenterology , microbiology and biotechnology , gene , paleontology
Abstract In recent years, some patients bearing “atypical” forms of cystic fibrosis (CF) with normal sweat chloride concentrations have been described. To identify the spectrum of mutant combinations causing such atypical CF, we collected the results of CFTR ( ABCC7 ) mutation analysis from 15 laboratories. Thirty patients with one or more typical symptoms of the disease associated with normal or borderline sweat chloride levels and bearing two CFTR mutations were selected. Phenotypes and genotypes of these 30 patients are described. A total of 18 different CFTR mutations were observed in the 60 chromosomes analysed. F508del was present in 31.6 % of the mutated chromosomes and 3849+10kbC>T in 13.3 %. R117H, D1152H, L206W, 3272‐26A>G, S1235R, G149R, R1070W, S945L, and the poly‐T tract variation commonly called IVS8‐5T were also observed. The relative frequency of CFTR mutations clearly differed from that observed in typical CF patients or in CBAVD patients with the same ethnic origin. A mild genotype with one or two mild or variable mutations was observed in all the patients. These findings improve our understanding of the distribution of CFTR alleles in CF with normal or borderline sweat chloride concentrations and will facilitate the development of more sensitive CFTR mutation screening. © 2003 Wiley‐Liss, Inc.