The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate - Université Paris-Est-Créteil-Val-de-Marne
Article Dans Une Revue Annals of Thoracic Medicine Année : 2017

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

Alnashmi Alanazi
  • Fonction : Auteur
Ralph Epaud
Humariya Heena
  • Fonction : Auteur
Abeer Mohammad Miqdad
  • Fonction : Auteur
Pascale Fanen
  • Fonction : Auteur
Abeermohammad Miqdad
  • Fonction : Auteur

Résumé

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.

Domaines

Génétique

Dates et versions

hal-03245008 , version 1 (01-06-2021)

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Citer

Alnashmi Alanazi, Ralph Epaud, Humariya Heena, Alix de Becdelievre, Abeer Mohammad Miqdad, et al.. The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate. Annals of Thoracic Medicine, 2017, 12 (3), pp.213. ⟨10.4103/atm.ATM_386_16⟩. ⟨hal-03245008⟩

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