Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants

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. Keywords: c.49_50dupTT, c.3963+1G.A, p.Asp373Asn, p.Glu815*, p.Asn900Lys, p.Trp277*
Source: Application of Clinical Genetics - Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research