Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.

ABSTRACT:

Background

Cystic fibrosis (CF) is one of the most common life-threatening genetic disorders. Around 2000 variants in the CFTR gene have been identified, with some proportion known to be pathogenic and 300 disease-causing mutations have been characterized in detail by CFTR2 database, which complicates its analysis with conventional methods.

Methods

We conducted next-generation sequencing (NGS) in a cohort of 89 adult patients negative for p.Phe508del homozygosity. Complete clinical and demographic information were available for 84 patients.

Results

By combining MLPA with NGS, we identified disease-causing alleles in all the CF patients. Importantly, in 10% of cases, standard bioinformatics pipelines were inefficient in identifying causative mutations. Class IV-V mutat

SUBMITTER: Ivanov M 

PROVIDER: S-EPMC5836842 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature