ArticlePediatric pulmonology2020
Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.
Article in Pediatric pulmonology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.Cytotherapy · 2024Guideline
- Challenges to Assessing the Prevalence of Cystic Fibrosis in the Caribbean.Pediatric pulmonology · 2026Review
- Proteostasis landscapes of cystic fibrosis variants reveal drug response vulnerability.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Proteostasis Landscapes of Cystic Fibrosis Variants Reveals Drug Response Vulnerability.bioRxiv : the preprint server for biology · 2025Article
- Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities.Pediatric pulmonology · 2024Article
- Article
- Detection of disease-causing CFTR variants in state newborn screening programs.Pediatric pulmonology · 2023Article
- Article
- Left behind: The potential impact of CFTR modulators on racial and ethnic disparities in cystic fibrosis.Paediatric respiratory reviews · 2022Review
- The QChip1 knowledgebase and microarray for precision medicine in Qatar.NPJ genomic medicine · 2022Article
- Cystic fibrosis patients of minority race and ethnicity less likely eligible for CFTR modulators based on CFTR genotype.Pediatric pulmonology · 2021Article
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Authors and funding
17 authors.
Funding
Abstract
backgroundIn cystic fibrosis (CF), the spectrum and frequency of CFTR variants differ by geography and race/ethnicity. CFTR variants in White patients are well-described compared with Latino patients. No studies of CFTR variants have been done in patients with CF in the Dominican Republic or Puerto Rico.
methodsCFTR was sequenced in 61 Dominican Republican patients and 21 Puerto Rican patients with CF and greater than 60 mmol/L sweat chloride. The spectrum of CFTR variants was identified and the proportion of patients with 0, 1, or 2 CFTR variants identified was determined. The functional effects of identified CFTR variants were investigated using clinical annotation databases and computational prediction tools.
resultsOur study found 10% of Dominican patients had two CFTR variants identified compared with 81% of Puerto Rican patients. No CFTR variants were identified in 69% of Dominican patients and 10% of Puerto Rican patients. In Dominican patients, there were 19 identified CFTR variants, accounting for 25 out of 122 disease alleles (20%). In Puerto Rican patients, there were 16 identified CFTR variants, accounting for 36 out of 42 disease alleles (86%) in Puerto Rican patients. Thirty CFTR variants were identified overall. The most frequent variants for Dominican patients were p.Phe508del and p.Ala559Thr and for Puerto Rican patients were p.Phe508del, p.Arg1066Cys, p.Arg334Trp, and p.I507del.
conclusionsIn this first description of the CFTR variants in patients with CF from the Dominican Republic and Puerto Rico, there was a low detection rate of two CFTR variants after full sequencing with the majority of patients from the Dominican Republic without identified variants.
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