Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis.

ABSTRACT:

Background

Idiopathic pulmonary fibrosis (IPF) is a serious disorder with a high mortality rate worldwide. It is characterized by irreversible scarring of the lung parenchyma resulting from excessive collagen production by proliferating fibroblasts/myofibroblasts. Previous studies have revealed that mutations in surfactant protein-related genes and telomerase complex genes are crucial underlying genetic factors.

Methods

In this study, we enrolled a family with IPF from the central southern region of China. Whole-exome sequencing was employed to explore candidate genes in this family. Real-time PCR and western blotting were used to study the functions of the identified mutations in vitro.

Results

A novel mutation (NM_001098668.4: c.619A>T; NP_001092138.1: p.N207Y) in s

SUBMITTER: Liu L 

PROVIDER: S-EPMC7507553 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature