Open AccessSpectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation
Author(s) -
Ortiz Sofía C.,
Aguirre Santiago J.,
Flores Sofía,
Maldonado Claudio,
Mejía Juan,
Salinas Lilian
Publication year - 2017
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.337
Subject(s) - cystic fibrosis , exon , mutation , gene , genetics , population , medicine , gene mutation , genetic heterogeneity , biology , phenotype , environmental health
Background High heterogeneity in the CFTR gene mutations disturbs the molecular diagnosis of cystic fibrosis ( CF ). In order to improve the diagnosis of CF in our country, the present study aims to define a panel of common CFTR gene mutations by sequencing 27 exons of the gene in Ecuadorian Cystic Fibrosis patients. Methods Forty‐eight Ecuadorian individuals with suspected/confirmed CF diagnosis were included. Twenty‐seven exons of CFTR gene were sequenced to find sequence variations. Prevalence of pathogenic variations were determined and compared with other countries’ data. Results We found 70 sequence variations. Eight of these are CF ‐causing mutations: p.F508del, p.G85E, p.G330E, p.A455E, p.G970S, W1098X, R1162X, and N1303K. Also this study is the second report of p.H609R in Ecuadorian population. Mutation prevalence differences between Ecuadorian population and other Latin America countries were found. Conclusion The panel of mutations suggested as an initial screening for the Ecuadorian population with cystic fibrosis should contain the mutations: p.F508del, p.G85E, p.G330E, p.A455E, p.G970S, W1098X, R1162X, and N1303K.