Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country

Luiz Vicente Ribeiro Ferreira da Silva Filho,Paulo José Cauduro Maróstica,Rodrigo Abensur Athanazio,Francisco José Caldeira Reis,Neiva Damaceno,Angela Tavares Paes, Adilson Yuuji Hira,David Schlesinger,Fernando Kok,Margarida D Amaral

Journal of Cystic Fibrosis（2021）

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摘要

•The Brazilian population has a high degree of ethnic admixture and heterogeneity.•The CFTR variant distribution found was unexpected vs that in other populations.•Extensive negative CFTR genotyping results are likely due to CF misdiagnosis.•Regions with higher negative CFTR genotyping results have lower CF-NBS coverage.•This study identifies Brazilian Regions requiring more CF centers/ better CF care.

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关键词

Genetics,Brazil,Diagnosis,Newborn screening,Sweat chloride

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