Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico
| Autor: | Angel C.Y. Mak, Vivian Medina, Gonçalo R. Abecasis, Meghan E. McGarry, Hyun Min Kang, Sam S. Oh, Jose R. Rodriguez-Santana, Amy K. Liu, Thomas W. Blackwell, Esteban G. Burchard, Sandra Salazar, Deepti Jain, Max A. Seibold, Thomas J. Nuckton, Leandra Cordero Oñate, Celeste Eng, Andrew M. Zeiger |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Latino
Pulmonary and Respiratory Medicine Male congenital hereditary and neonatal diseases and abnormalities Adolescent Cystic Fibrosis CFTR variants Respiratory System Sweat chloride Puerto rican Black People Cystic Fibrosis Transmembrane Conductance Regulator Cystic fibrosis Article White People Paediatrics and Reproductive Medicine Congenital 03 medical and health sciences Rare Diseases 0302 clinical medicine Clinical Research 030225 pediatrics Genetics medicine Humans In patient Allele Lung health disparities whole genome sequencing Base Sequence business.industry Dominican Republic Puerto Rico Hispanic or Latino respiratory system medicine.disease digestive system diseases respiratory tract diseases Good Health and Well Being 030228 respiratory system Pediatrics Perinatology and Child Health Female Detection rate business geographic locations |
| Zdroj: | Pediatr Pulmonol Pediatric pulmonology, vol 55, iss 2 |
| Popis: | 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 andgreater 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 andp.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. |
| Databáze: | OpenAIRE |
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