Correlating SFTPC gene variants to interstitial lung disease in Egyptian children.

ABSTRACT:

Background

Interstitial lung disease (ILD) is a broad heterogeneous group of lung disorders that is characterized by inflammation of the lungs. Surfactant dysfunction disorders are a rare form of ILD diseases that result from mutations in surfactant protein C gene (SFTPC) with prevalence of approximately 1/1.7 million births. SFTPC patients are presented with clinical manifestations of ILD ranging from fatal respiratory failure of newborn to chronic respiratory problems in children. In the current study, we aimed to investigate the spectrum of SFTPC genetic variants as well as the correlation of the SFTPC gene mutations with ILD disease in twenty unrelated Egyptian children with diffuse lung disease and suspected surfactant dysfunction using Sanger sequencing.

Results

Sequen

SUBMITTER: Abdel Megeid AK 

PROVIDER: S-EPMC9360361 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature