| CASE REPORT |
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| Year : 2017 | Volume
: 12
| Issue : 3 | Page : 213-215 |
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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
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/atm.ATM_386_16
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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.
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