CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.

ABSTRACT:

Background

Cystic fibrosis (CF) is a rare condition in Asians. Since 1985, only about 30 Chinese patients have been reported with molecular confirmation.

Method

Using our in-house next-generation sequencing (NGS) pipeline for childhood bronchiectasis, we identified disease-causing CFTR mutations in CF patients in Hong Kong. After identifying p.I1023R in multiple patients, haplotype analysis was performed with genome-wide microarray to ascertain the likelihood of this being a founder mutation. We also assessed the processing and gating activity of the mutant protein by Western hybridization and patch-clamp test.

Results

Molecular diagnoses were confirmed in four patients, three of whom shared a missense mutation: CFTR:c.3068T>G:p.I1023R. The results sugge

SUBMITTER: Leung GK 

PROVIDER: S-EPMC5241212 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature