Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.

ABSTRACT:

Background

Cystic fibrosis (CF) is an autosomal recessive disease caused by genetic variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is a common hereditary disease in Caucasians while rare in the Chinese. Until now, only 87 Chinese patients have been reported with molecular confirmations. The variant spectrum and clinical features of Chinese CF patients are obviously different from those of Caucasians.

Materials and methods

Whole-exome sequencing was applied to analyze the exome of three individuals who have only the typical CF phenotype in the respiratory system from two consanguineous families. The protein domain and structure analysis were applied to predict the impact of the variants. Sanger sequencing was applied to validate the

SUBMITTER: Yang B 

PROVIDER: S-EPMC8283821 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature