ABCA3 gene mutations shape the clinical profiles of severe unexplained respiratory distress syndrome in late preterm and term infants.

ABSTRACT:

Background

The majority of unexplained respiratory distress syndrome (URDS) cases in late preterm and term infants are caused by genetic abnormalities, with the most common of these being ABCA3 gene mutation. At present, it is unclear to neonatologists whether URDS patients with ABCA3 mutation have similar or more challenging clinical profiles to those without any defined genetic abnormalities. Our study aimed to answer this question by comparing the clinical characteristics of severe URDS patients with homozygous or compound heterozygous ABCA3 mutations, a single ABCA3 mutation, or no defined genetic abnormalities.

Methods

This retrospective cohort study involved 39 late preterm and term infants with URDS underwent a clinical exome sequencing at

SUBMITTER: Wang J 

PROVIDER: S-EPMC7944190 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature