Open AccessThe most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate
Author(s) -
Alnashmi Alanazi,
Ralph Epaud,
Humariya Heena,
Alix de Becdelièvre,
Abeer M. Miqdad,
Pascale Fanen
Publication year - 2017
Publication title -
annals of thoracic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.639
H-Index - 33
eISSN - 1817-1737
pISSN - 1998-3557
DOI - 10.4103/atm.atm_386_16
Subject(s) - medicine , nonsense mutation , respiratory distress , interstitial lung disease , neonatal respiratory distress syndrome , lung , mutation , respiratory system , respiratory failure , pediatrics , immunology , genetics , gene , pregnancy , biology , surgery , gestational age , missense mutation
Defects in the surfactant biosynthesis are associated with respiratory distress syndrome, commonly occurring in premature infants due to lung immaturity. However, interstitial lung diseases have also been observed in full-term infants with mutations in the SFTPC, SFTPB, NKX2-1, or ABCA3 genes, involved in the surfactant metabolism. Herein, we report a newborn baby with neonatal respiratory distress and diffuse lung disease caused by ABCA3 mutation. The baby died at 5 weeks of age after developing pulmonary hypertension. Genomic DNA was analyzed for four genes involved in surfactant metabolism out of which the c. 4545C>G (p.Tyr1515*) homozygous mutation in exon 29 of ABCA3 was identified which is one of the most frequent mutation causing lethal neonatal respiratory failure in a term neonate. This case study emphasizes the importance of raising awareness about this diagnosis in the clinical settings for fruitful outcomes in health-care delivery.