Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.

ABSTRACT:

Background

Cystic fibrosis (CF) is a rare autosomal recessive disorder caused by biallelic mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The clinical features and mutation spectrum of CF have been well characterized in Caucasians, while limited studies were conducted in Chinese patients.

Subjects and methods

A total of 20 individuals from 19 families were diagnosed with CF in this study. We analyzed the clinical features and screened all coding exons of CFTR using a combination of Sanger sequencing and multiplex ligation-dependent probe amplification analysis.

Results

The median age at onset was 9.3 years in our cohort, while the median age at diagnosis was 19 years. The respiratory system was most frequently affected in this study:

SUBMITTER: Liu K 

PROVIDER: S-EPMC7294671 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature