Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infant.

ABSTRACT: The term baby presented with respiratory distress with X-ray pictures consistent as hyaline membrane disease (HMD). Baby was ventilated and treated with surfactant. Because of the persistence of high ventilation needs with X-ray pictures consistent with HMD with a transient response to surfactant every time, the possibility of an inherited disorder of surfactant metabolism was kept. Whole-exome sequencing revealed a novel homozygous missense mutation in the gene for ATP binding cassette transporter protein A3. The baby died after 100 days of ventilation.

SUBMITTER: Gupta NP 

PROVIDER: S-EPMC7552797 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature