ArticleThe Journal of molecular diagnostics : JMD2005
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
Article in The Journal of molecular diagnostics : JMD, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 45 citations in OpenAlex.
- Development of a Tagmentation-Based Next-Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis-Based Sequencing.Molecular genetics & genomic medicine · 2024Article
- Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.Saudi medical journal · 2023Article
- Cystic fibrosis-related mortality in the United States from 1999 to 2020: an observational analysis of time trends and disparities.Scientific reports · 2023Observational
- The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.International journal of pediatrics & adolescent medicine · 2022Article
- Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?Journal of assisted reproduction and genetics · 2022Observational
- A simple, fast and inexpensive method for mutation scanning of CFTR gene.BMC medical genetics · 2017Article
- Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.Molecular genetics & genomic medicine · 2017Article
- A rare CFTR mutation associated with severe disease progression in a 10-year-old Hispanic patient.Clinical case reports · 2017Article
- Minorities Are Underrepresented in Clinical Trials of Pharmaceutical Agents for Cystic Fibrosis.Annals of the American Thoracic Society · 2016Article
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- The tumor necrosis factor α (-308 A/G) polymorphism is associated with cystic fibrosis in Mexican patients.PloS one · 2014Article
- Early acute pancreatitis in a child with compound heterozygosis ∆F508/R1438W/Y1032C cystic fibrosis: a case report.Journal of medical case reports · 2013Article
- Genome-wide association studies: implications for multiethnic samples.Human molecular genetics · 2008Review
- Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.The Journal of molecular diagnostics : JMD · 2008Article
- Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2008Review
- Cystic Fibrosis testing among Arab-Americans.Genetics in medicine : official journal of the American College of Medical Genetics · 2006Article
- A haplotype framework for cystic fibrosis mutations in Iran.The Journal of molecular diagnostics : JMD · 2006Article
- Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.Annals of Saudi medicineArticle
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Characterization of CFTR mutations in the U.S. Hispanic population is vital to early diagnosis, genetic counseling, patient-specific treatment, and the understanding of cystic fibrosis (CF) pathogenesis. The mutation spectrum in Hispanics, however, remains poorly defined. A group of 257 self-identified Hispanics with clinical manifestations consistent with CF were studied by temporal temperature gradient electrophoresis and/or DNA sequencing. A total of 183 mutations were identified, including 14 different amino acid-changing novel variants. A significant proportion (78/85) of the different mutations identified would not have been detected by the ACMG/ACOG-recommended 25-mutation screening panel. Over one third of the mutations (27/85) occurred with a relative frequency >1%, which illustrates that the identified mutations are not all rare. This is supported by a comparison with other large CFTR studies. These results underscore the disparity in mutation identification between Caucasians and Hispanics and show utility for comprehensive diagnostic CFTR mutation analysis in this population.
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