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Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes
Author(s) -
Nunes V.,
Casals T.,
Gaona A.,
Antiñolo G.,
FerrerCalvete J.,
PérezFrias J.,
Tardío E.,
Molano J.,
Estivill X.
Publication year - 1992
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.1380010505
Subject(s) - cystic fibrosis , biology , δf508 , exon , mutation , genetics , cystic fibrosis transmembrane conductance regulator , gene
The majority of the identified cystic fibrosis (CF) mutations are very uncommon in the total patient population, making the correlation between the clinical presentation and the molecular alterations difficult. The largest deletion that has been described so far in CF is of 84 bp in exon 13, which corresponds to the regulatory (R) domain of the CF transmembrane conductance regulator (CFTR) protein. We have analysed 340 Spanish CF patients for this deletion, named 1949del84, and found three further compound heterozygous patients for mutations 1949del84 and ΔF508, and one for 1949del84 and an unknown mutation. Evaluation of the clinical data in these patients suggests that this in‐frame deletion, when associated with ΔF508, has a similar disease severity to that of ΔF508 homozygous patients. © 1992 Wiley‐Liss, Inc.