Identification of a low frequency missense mutation in MUC6 contributing to pulmonary artery hypertension by whole-exome sequencing.

ABSTRACT: Pulmonary arterial hypertension (PAH) represents a progressive disease characterized by abnormally high blood pressure in the pulmonary artery. Although mutations in the bone morphogenetic receptor 2 (BMPR2) are found in 80% of heritable, their low penetrance suggests that other unidentified genetic modifiers are required for this disease. In this report, whole-exome sequencing (WES) and a linkage analysis were performed on genomic DNA isolated from four affected relatives and one non-affected relative in two PAH families. By focusing on meaningful variants which were presented in the four affected family members, but not presented in the non-affected individual, 49 SNP and eight indel variants in 39 genes were identified as candidates. Further high-throughput multiplex genotyping and Sang

SUBMITTER: Zou L 

PROVIDER: S-EPMC6104216 | biostudies-literature | 2018 Jul-Sep

REPOSITORIES: biostudies-literature