Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

ABSTRACT:

Background

We aimed to provide a set of previously reported PAH-associated missense and nonsense variants, and evaluate the pathogenicity of those variants.

Methods

The Human Gene Mutation Database, PubMed, and Google Scholar were searched for previously reported PAH-associated genes and variants. Thereafter, both exome sequencing project and exome aggregation consortium as background population searched for previously reported PAH-associated missense and nonsense variants. The pathogenicity of previously reported PAH-associated missense variants evaluated by using four in silico prediction tools.

Results

In total, 14 PAH-associated genes and 180 missense and nonsense variants were gathered. The BMPR2, the most frequent reported gene, encompasses 135 of 180 missense a

SUBMITTER: Abbasi Y 

PROVIDER: S-EPMC6160702 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature