Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.

ABSTRACT:

Background

In 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.

Methods

CFTR 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.

Results

Our study found 10% of Dominican patients

SUBMITTER: Zeiger AM 

PROVIDER: S-EPMC7571374 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature