ArticleJournal of perinatology : official journal of the California Perinatal Association2015
Respiratory failure in a term infant with cis and trans mutations in ABCA3.
Article in Journal of perinatology : official journal of the California Perinatal Association, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 11 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Epidemiology of Surfactant Protein-B Deficiency
Genetic Regulation of Surfactant Deficiency in Human Newborn Infants
Who cites it
11 citing papers in PubMed, 16 citations in OpenAlex.
- Evaluation and Management of Genetic Respiratory Disorders Presenting as Hypoxemic Respiratory Failure in the Newborn Infant.Clinics in perinatology · 2026Review
- Novel Compound Heterozygous Mutation of theJournal of clinical medicine · 2025Article
- Genetic Disorders of Surfactant Metabolism.NeoReviews · 2025Review
- THERAPIES FOR NEONATAL DISEASES OF THE SURFACTANT SYSTEM.Transactions of the American Clinical and Climatological Association · 2025Review
- Review
- Article
- Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.Pediatric pulmonology · 2022Article
- Article
- Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants.Human mutation · 2020Article
- Genetic causes of surfactant protein abnormalities.Current opinion in pediatrics · 2019Review
- Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome.Journal of perinatology : official journal of the California Perinatal Association · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
A full-term female neonate presented with persistent respiratory failure and radiologic studies consistent with surfactant deficiency. Sequencing of the ATP-binding cassette transporter A3 gene (ABCA3) revealed three mutations: R280C, V1399M and Q1589X. The infant underwent bilateral lung transplantation at 9 months of age and is alive at 3 years of age. Parental sequencing demonstrated that two of the mutations (R280C and Q1589X) were oriented on the same allele (cis), whereas V1399M was oriented on the opposite allele (trans). As more than one mutation in ABCA3 can be present on the same allele, parental studies are needed to determine allelic orientation to inform clinical decision making and future reproductive counseling.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.