Surfactant deficiency syndrome in an infant with a C‐terminal frame shift in ABCA3: A case report
| العنوان: | Surfactant deficiency syndrome in an infant with a C‐terminal frame shift in ABCA3: A case report |
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| المؤلفون: | Anthony J. Fischer, Nour Akil |
| المصدر: | Pediatric Pulmonology |
| بيانات النشر: | John Wiley and Sons Inc., 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Pulmonary and Respiratory Medicine, Male, Pulmonary Surfactant-Associated Proteins, DNA Mutational Analysis, Case Report, ABCA3, Lamellar granule, medicine.disease_cause, Frameshift mutation, Alveolar cells, 03 medical and health sciences, 0302 clinical medicine, Pulmonary surfactant, Gastroscopy, Medicine, Humans, genetics, Frameshift Mutation, childhood, chemistry.chemical_classification, Mutation, Respiratory Distress Syndrome, Newborn, biology, business.industry, interstitial lung disease (ILD), Infant, Newborn, Amino acid, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Treatment Outcome, chemistry, surfactant biology and pathophysiology, Pediatrics, Perinatology and Child Health, biology.protein, ATP-Binding Cassette Transporters, business, Sequence motif, 030217 neurology & neurosurgery, Case Report Published Online |
| الوصف: | Deficiency in ATP binding cassette A3 (ABCA3) causes neonatal respiratory distress, hypoxemic respiratory failure, and interstitial lung disease. ABCA3 transports phospholipids into the lamellar bodies of type II alveolar cells, a critical step in alveolar surfactant production. We report a term infant with ABCA3 surfactant deficiency syndrome with the E292V (c.875A>T; p.Glu292Val) mutation in trans with a novel C‐terminal frame shift mutation (c.4938delC; p.Met1647fs). This mutation removes the final 58 amino acids and substitutes 33 incorrect amino acids. The frame shift spares membrane spanning and nucleotide binding domains, but disrupts a highly conserved C‐terminal domain, which includes sequence motifs necessary for the function of human paralogs ABCA1, ABCA4, and the bacterial homolog DrrA. This observation suggests the C‐terminal domain is also required for normal function of ABCA3. |
| اللغة: | English |
| تدمد: | 1099-0496 8755-6863 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e10fe5d215b3ed441e64c4458d3310a0 http://europepmc.org/articles/PMC5947115 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....e10fe5d215b3ed441e64c4458d3310a0 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10990496 87556863 |
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