A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure.

ABSTRACT:

Background

Lethal respiratory failure is primarily caused by a deficiency of pulmonary surfactant, and is the main cause of neonatal death among preterm infants. Pulmonary surfactant metabolism dysfunction caused by variants in the ABCA3 gene is a rare disease with very poor prognosis. Currently, the mechanisms associated with some ABCA3 variants have been determined, including protein mistrafficking and impaired phospholipid transport. However, some novel variants and their underlying pathogenesis has not been fully elucidated yet. In this study we aimed to identify the genetic features in a family with lethal respiratory failure.

Methods

We studied members of two generations of a Chinese family, including a female proband, her parents, her monozygotic twin sister, and her

SUBMITTER: Zhang W 

PROVIDER: S-EPMC8556997 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature