ArticleAnnals of the American Thoracic Society2013
Large ABCA3 and SFTPC deletions resulting in lung disease.
Article in Annals of the American Thoracic Society, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Systematic review of drug effects in humans and models with surfactant-processing disease.European respiratory review : an official journal of the European Respiratory Society · 2018Pooled it
- Idiopathic Pulmonary Fibrosis: Analysis of Predisposing Variants in Patients with Familial Forms.Biomedicines · 2026Article
- Review
- The Clinical Approach to Interstitial Lung Disease in Childhood: A Narrative Review Article.Children (Basel, Switzerland) · 2024Review
- Descriptive and Functional Genomics in Neonatal Respiratory Distress Syndrome: From Lung Development to Targeted Therapies.International journal of molecular sciences · 2024Review
- Towards personalized therapies for genetic disorders of surfactant dysfunction.Seminars in fetal & neonatal medicine · 2023Review
- A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure.BMC medical genomics · 2021Article
- Surfactant protein disorders in childhood interstitial lung disease.European journal of pediatrics · 2021Review
- Landscape and dynamics of single tumor and immune cells in early and advanced-stage lung adenocarcinoma.Clinical and translational medicine · 2021Article
- Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infant.BMJ case reports · 2020Article
- Alveolar Dynamics and Beyond - The Importance of Surfactant Protein C and Cholesterol in Lung Homeostasis and Fibrosis.Frontiers in physiology · 2020Review
- Genetic causes of surfactant protein abnormalities.Current opinion in pediatrics · 2019Review
- Respiratory failure in a term infant with cis and trans mutations in ABCA3.Journal of perinatology : official journal of the California Perinatal Association · 2015Article
- Genotype-phenotype correlations for infants and children with ABCA3 deficiency.American journal of respiratory and critical care medicine · 2014Article
- Interstitial lung disease in children.Current opinion in pediatrics · 2014Review
- Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.The Journal of pediatrics · 2014Article
Corrections and comments
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Authors and funding
7 authors at 6 institutions in 2 countries.
Funding
Abstract
rationaleMutations in genes encoding proteins important in the function and metabolism of pulmonary surfactant are recognized causes of lung disease. Clinical genetic testing is available for these disorders, but children with phenotypes consistent with surfactant dysfunction and no identifiable mutations in the known causative genes have been reported.
objectivesTo identify the mechanism(s) for lung disease in two children with the phenotype of surfactant dysfunction who had negative testing in clinical laboratories for gene mutations causing surfactant dysfunction.
methodsAmplicons spanning multiple exons of candidate genes were generated by polymerase chain reaction and sequenced. MEASUREMENTS AND MAIN
resultsA 4,335-base deletion that included all of exon 12 of the gene encoding member A3 of the adenosine triphosphate-binding cassette transporter was identified in a full-term infant with respiratory failure. A 333-base deletion involving part of exon 4 and the adjacent intron of the gene encoding surfactant protein C was identified in a child with interstitial lung disease.
conclusionsLarge deletions are a cause of surfactant dysfunction disorders and may need to be sought for specifically in children whose phenotypes suggest these syndromes but in whom clinical genetic testing is unrevealing.
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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.