ArticlePediatric pulmonology2018
Surfactant deficiency syndrome in an infant with a C-terminal frame shift in ABCA3: A case report.
Article in Pediatric pulmonology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- Novel Compound Heterozygous Mutation of theJournal of clinical medicine · 2025Article
- Article
- Novel insights into congenital surfactant dysfunction disorders by in silico analysis of ABCA3 proteins.World journal of pediatrics : WJP · 2023Article
- Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course.The Journal of pediatrics · 2021Article
- Genetic variants of small airways and interstitial pulmonary disease in children.Scientific reports · 2021Article
- Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.Cold Spring Harbor molecular case studies · 2020Article
- Functional significance of the conserved C-Terminal VFVNFA motif in the retina-specific ABC transporter, ABCA4, and its role in inherited visual disease.Biochemical and biophysical research communications · 2019Article
- Surfactant deficiency syndrome in an infant with a C-terminal frame shift in ABCA3: A case report.Pediatric pulmonology · 2018Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
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