Annals of Thoracic Medicine
CASE REPORT
Year
: 2017  |  Volume : 12  |  Issue : 3  |  Page : 213--215

The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate


AlNashmi AlAnazi1, Ralph Epaud2, Humariya Heena3, Alix de becdelievre4, Abeer Mohammad Miqdad5, Pascale Fanen4 
1 Department of Pediatrics, Security Forces Hospital, Alfaisal University, Riyadh, Saudi Arabia
2 Department of Pediatrics, Creteil Intercommunal Hospital, France
3 Research Center, King Fahad Medical City, Riyadh, Saudi Arabia
4 Genetic Department, Henri Mondor Hospital, France
5 Department of Pediatrics, NICU, Security Forces Hospital, Riyadh, Saudi Arabia

Correspondence Address:
AlNashmi AlAnazi
Department of Pediatrics, Security Forces Hospital, Alfaisal University, Riyadh
Saudi Arabia

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.


How to cite this article:
AlAnazi A, Epaud R, Heena H, de becdelievre A, Miqdad AM, Fanen P. The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate.Ann Thorac Med 2017;12:213-215


How to cite this URL:
AlAnazi A, Epaud R, Heena H, de becdelievre A, Miqdad AM, Fanen P. The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate. Ann Thorac Med [serial online] 2017 [cited 2022 Dec 2 ];12:213-215
Available from: https://www.thoracicmedicine.org/article.asp?issn=1817-1737;year=2017;volume=12;issue=3;spage=213;epage=215;aulast=AlAnazi;type=0