title: CFTR H609R mutation in Ecuadorian patients with cystic fibrosis.
abstract: Mutation epidemiology in each ethnic group is important for cystic fibrosis diagnosis and genetic counselling. To date, little has been reported on the prevalence of cystic fibrosis in the Ecuadorian population where the mutation distribution appears to differ from that of Europe. We present a series of four Ecuadorian patients homozygous for the H609R mutation in the CFTR gene. This is the first report of detection of this mutation in the Ecuadorian population. Taking advantage of the homozygous status of the patients, an evaluation of the most important clinical parameters is presented. From the diagnostic point of view, the information provided by our study is of relevance in designing an appropriate strategy for genetic testing of patients in Ecuador and in European countries where immigration from Ecuador is common.
authors.affiliation: Centro de Bioquímica y Genética Clínica, Hospital Virgen de la Arrixaca, El Palmar, Murcia, 30120, Spain. rosa.moya2@carm.es
authors.forename: María Rosa
authors.initials: MR
authors.lastname: Moya-Quiles
authors.forename: Guillermo
authors.initials: G
authors.lastname: Glover
authors.forename: Pedro
authors.initials: P
authors.lastname: Mondéjar-López
authors.forename: María Dolores
authors.initials: MD
authors.lastname: Pastor-Vivero
authors.forename: Asunción
authors.initials: A
authors.lastname: Fernández-Sánchez
authors.forename: Manuel
authors.initials: M
authors.lastname: Sánchez-Solís
mesh_terms: D000293:Adolescent; D000328:Adult; D003550:Cystic Fibrosis / Q000453:epidemiology* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004484:Ecuador / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D017354:Point Mutation
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator