Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations

Guillermo Lay-Son; Alonso Puga; Pedro Astudillo; Gabriela M Repetto; Collaborative Group of the Chilean National Cystic Fibrosis Program

doi:10.1016/j.jcf.2010.10.002

Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations

J Cyst Fibros. 2011 Jan;10(1):66-70. doi: 10.1016/j.jcf.2010.10.002. Epub 2010 Oct 30.

Authors

Guillermo Lay-Son¹, Alonso Puga, Pedro Astudillo, Gabriela M Repetto; Collaborative Group of the Chilean National Cystic Fibrosis Program

Collaborators

Collaborative Group of the Chilean National Cystic Fibrosis Program:
Jerka Krstulovic, Marcia Vega, Debora Rodríguez, Ricardo Varas, Marcela Andrade, Angela Nuñez, Margarita Nuñez, Eugenia Ortiz, Nino Valdes, Nancy Vega, Ilse Gonzalez, Camila Molina, Margarita Peñafiel, Guadalupe Rozas, Beatriz Zamora, Isabel Largo, Jaime Lozano, Genoveva Perra, Cristina Pierry, Barbara Walker, Maria Lina Boza, Luis Astorga, Patricia Fernandez, Oscar Fielbaum, Jorge Navarro, Ricardo Kogan, Maria Angelica Perez, Lilian Rubilar, Ilse Contreras, Marcela Linares, Ricardo Madrid, Mireya Mendez, Patricio Fuentes, Juan Carlos Parra, Jury Hernandez, Jose Andres Mardones, Junia Silva, Concepcion Roxana Maturana, Margaret Oelker, Susana Soto, Rosana Acuña, Miriam Betancourt, Gloria Retamal, Adriana Kyling, Carmen Albornoz, Marisol Mediavilla, Alexis luisa Strickler, Gustavo Pizarro

Affiliation

¹ Center for Human Genetics, Facultad de Medicina Clínica Alemana-Universidad del Desarrollo, Av. Las Condes 12438, Lo Barnechea, Santiago, Chile.

PMID: 21036675
DOI: 10.1016/j.jcf.2010.10.002

Abstract

Background: CFTR gene mutations have worldwide differences in prevalence and data on Chilean patients is scarce.

Methods: We studied 36 of the most common CFTR mutations in Chilean patients from the CF National Program [Programa Nacional de Fibrosis Quística (PNFQ)] of the Ministry of Health of Chile.

Results: Two hundred and eighty-nine patients were studied. Fourteen different mutations were identified with an overall allele detection rate of 42.0%. Mutations with frequencies greater than 1% were p.F508del (30.3% of alleles), p.R334W (3.3%), p.G542X (2.4%), c.3849+10Kb C>T (1.7%), and p.R553X (1.2%). A north to south geographical gradient was observed in the overall rate of detection.

Conclusions: Southern European CFTR mutations predominate in the Chilean population, but a high percentage of alleles remain unknown. Geographical heterogeneity could be explained in part by admixture. Complementary analyses are necessary to allow for effective genetic counselling and improve cost-effectiveness of screening and diagnostic tests.

Publication types

Multicenter Study

MeSH terms

Alleles
Chile / epidemiology
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Cystic Fibrosis* / epidemiology
Cystic Fibrosis* / genetics
Female
Genome-Wide Association Study
Genotype
Humans
Male
Mutation
Prevalence

Substances

Cystic Fibrosis Transmembrane Conductance Regulator