title: Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.
abstract: The mutations in the CFTR gene found in patients with cystic fibrosis (CF) have geographic differences, but there are scant data on their prevalence in Venezuelan patients. This study determined the frequency of common CFTR gene mutations in a group of Venezuelan patients with CF. The 27 exons of the CFTR gene from 110 Venezuelan patients in the National CF Program were amplified and sequenced. A total of 36 different mutations were identified, seven with frequencies greater than 1%: p.Phe508del (27.27%), p.Gly542* (3.18%), c.2988+1G>A (3.18%), p.Arg334Trp (1.36%), p.Arg1162* (1.36%), c.1-8G>C (1.36%), and p.[Gly628Arg;Ser1235Arg](1.36). In 40% of patients, all with a clinical diagnosis of CF, no mutations were found. This report represents the largest cohort of Venezuelan patients with CF ever examined, and includes a wider mutation panel than has been previously studied in this population. Mutations common in Southern European populations predominate, and several new mutations were discovered, but no mutations were found in 40% of the cohort.
authors.affiliation: Unit of Genetic and Forensic Studies, Venezuelan Institute for Scientific Research (IVIC), Caracas, Venezuela.
authors.forename: Karen
authors.initials: K
authors.lastname: Sánchez
authors.affiliation: Unit of Genetic and Forensic Studies, Venezuelan Institute for Scientific Research (IVIC), Caracas, Venezuela.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: de Mendonca
authors.affiliation: Hospital JM de los Ríos, Algodonal, National Reference Unit, Caracas, Venezuela.
authors.forename: Xiorama
authors.initials: X
authors.lastname: Matute
authors.affiliation: Hospital JM de los Ríos, Algodonal, National Reference Unit, Caracas, Venezuela.
authors.forename: Ismenia
authors.initials: I
authors.lastname: Chaustre
authors.affiliation: Hospital José Ignacio Baldo, Algodonal, National Reference Unit, Caracas, Venezuela.
authors.forename: Marlene
authors.initials: M
authors.lastname: Villalón
authors.affiliation: Laboratory of Molecular Genetics, Venezuelan Institute for Scientific Research (IVIC), Caracas, Venezuela.
authors.forename: Howard
authors.initials: H
authors.lastname: Takiff
keywords: c.3963+1G.A; c.49_50dupTT; p.Asn900Lys; p.Asp373Asn; p.Glu815*; p.Trp277*