The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate
| العنوان: | The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate |
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| المؤلفون: | AlAnazi, AlNashmi, Epaud, Ralph, Heena, Humariya, de Becdelievre, Alix, Miqdad, Abeer Mohammad, Fanen, Pascale, Miqdad, AbeerMohammad |
| المساهمون: | Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12) |
| المصدر: | Annals of Thoracic Medicine Annals of Thoracic Medicine, Medknow Publications, 2017, 12 (3), pp.213. ⟨10.4103/atm.ATM_386_16⟩ Annals of Thoracic Medicine, Vol 12, Iss 3, Pp 213-215 (2017) |
| بيانات النشر: | Medknow, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, Pulmonary and Respiratory Medicine, lcsh:Diseases of the circulatory (Cardiovascular) system, Pathology, medicine.medical_specialty, Nonsense mutation, Case Report, Interstitial lung disease, ABCA3, medicine.disease_cause, 03 medical and health sciences, Exon, pediatric pulmonology, 0302 clinical medicine, neonatal respiratory failure, medicine, lcsh:RC705-779, [SDV.GEN]Life Sciences [q-bio]/Genetics, Mutation, Lung, biology, Respiratory distress, business.industry, lcsh:Diseases of the respiratory system, medicine.disease, Pulmonary hypertension, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, 030228 respiratory system, lcsh:RC666-701, Immunology, biology.protein, Surgery, Cardiology and Cardiovascular Medicine, business |
| الوصف: | International audience; 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. |
| تدمد: | 1817-1737 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d9ef7ee079a6dd6a7561edb1fea91c1Test https://doi.org/10.4103/atm.atm_386_16Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4d9ef7ee079a6dd6a7561edb1fea91c1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18171737 |
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