Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant

J Perinatol. 2014 Dec;34(12):951-3. doi: 10.1038/jp.2014.132.

Abstract

Inherited disorders of surfactant metabolism are manifested in neonatal period as a severe respiratory failure not responding to exogenous surfactant administration. We illustrate the case of a term newborn with respiratory failure because of compound heterozygous mutation in adenosine triphosphate-binding cassette transporter A3 (ABCA3)-in exon 24 M1227R and in exon 29 Ins1510fs/ter1519. These mutations of ABCA3 have not been described yet and expand the group of lethal ABCA3 variants.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • DNA Mutational Analysis
  • Fatal Outcome
  • Genetic Heterogeneity
  • Genetic Variation
  • High-Frequency Ventilation
  • Humans
  • Infant, Newborn
  • Male
  • Respiratory Insufficiency / genetics*
  • Respiratory Insufficiency / therapy
  • Term Birth

Substances

  • ABCA3 protein, human
  • ATP-Binding Cassette Transporters