ArticleMolecular genetics & genomic medicine2017
Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- When Standard Newborn Screening Isn't Enough: Diagnostic Challenges in the Age of Globalization.Clinical case reports · 2026Article
- Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.Genome medicine · 2024Article
- Article
- Comprehensive analysis of mutations and clonal evolution patterns in a cohort of patients with cytogenetically normal acute myeloid leukemia.Molecular cytogenetics · 2021Article
- Phenotyping Rare CFTR Mutations Reveal Functional Expression Defects Restored by TRIKAFTAJournal of personalized medicine · 2021Article
- Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.BMC pediatrics · 2020Article
- Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.BioMed research international · 2020Article
- Standardized clinical criteria and sweat test combined as a tool to diagnose Cystic Fibrosis.Heliyon · 2018Article
- Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.Molecular genetics & genomic medicine · 2017Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHigh 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.
methodsForty-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.
resultsWe 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.
conclusionThe 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.
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