Annals of Thoracic Medicine Official publication of the Saudi Thoracic Society, affiliated to King Saud University
 
Search Ahead of print Current Issue Archives Instructions Subscribe e-Alerts Login 
Home Email this article link Print this article Bookmark this page Decrease font size Default font size Increase font size
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


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
Login to access the Email id


DOI: 10.4103/atm.ATM_386_16

PMID: 28808495

Rights and Permissions

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.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1440    
    Printed30    
    Emailed0    
    PDF Downloaded164    
    Comments [Add]    

Recommend this journal