ArticlePediatrics2012
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
Article in Pediatrics, 2012. 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 55 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
55 citing papers in PubMed, 107 citations in OpenAlex.
- Evaluation and Management of Genetic Respiratory Disorders Presenting as Hypoxemic Respiratory Failure in the Newborn Infant.Clinics in perinatology · 2026Review
- Respiratory Outcomes in Children With Neonatal Respiratory Distress Syndrome and Monoallelic ABCA3 Variants.Pediatric pulmonology · 2026Article
- A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes.Italian journal of pediatrics · 2025Article
- Genetic Disorders of Surfactant Metabolism.NeoReviews · 2025Review
- Review
- Innovations in Childhood Interstitial and Diffuse Lung Disease.Clinics in chest medicine · 2024Review
- Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms ofMedicina (Kaunas, Lithuania) · 2024Article
- Persistent Pulmonary Hypertension of Newborns Secondary to Labile Hypoxemia Associated With Cyanosis: A Case Series.Cureus · 2024Article
- Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations.The Journal of clinical investigation · 2024Article
- Towards personalized therapies for genetic disorders of surfactant dysfunction.Seminars in fetal & neonatal medicine · 2023Review
- Article
- Novel insights into congenital surfactant dysfunction disorders by in silico analysis of ABCA3 proteins.World journal of pediatrics : WJP · 2023Article
- Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.Pediatric pulmonology · 2022Article
- Diagnostic Challenges in Neonatal Respiratory Distress-Congenital Surfactant Metabolism Dysfunction Caused byDiagnostics (Basel, Switzerland) · 2022Article
- A dominant negative variant ofProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Accurate assignment of disease liability to genetic variants using only population data.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in theFrontiers in genetics · 2022Article
- Additional Adverse Perinatal Outcomes With No Effect on Neonatal Mortality and Birth Defects in Pregnancies Conceived by Assisted Reproductive Technology.Frontiers in pediatrics · 2022Article
- A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure.BMC medical genomics · 2021Article
- Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course.The Journal of pediatrics · 2021Article
Corrections and comments
- Commented on by
Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
BACKGROUND AND
objectiveNeonatal respiratory distress syndrome (RDS) due to pulmonary surfactant deficiency is heritable, but common variants do not fully explain disease heritability.
methodsUsing next-generation, pooled sequencing of race-stratified DNA samples from infants ≥34 weeks' gestation with and without RDS (n = 513) and from a Missouri population-based cohort (n = 1066), we scanned all exons of 5 surfactant-associated genes and used in silico algorithms to identify functional mutations. We validated each mutation with an independent genotyping platform and compared race-stratified, collapsed frequencies of rare mutations by gene to investigate disease associations and estimate attributable risk.
resultsSingle ABCA3 mutations were overrepresented among European-descent RDS infants (14.3% of RDS vs 3.7% of non-RDS; P = .002) but were not statistically overrepresented among African-descent RDS infants (4.5% of RDS vs 1.5% of non-RDS; P = .23). In the Missouri population-based cohort, 3.6% of European-descent and 1.5% of African-descent infants carried a single ABCA3 mutation. We found no mutations among the RDS infants and no evidence of contribution to population-based disease burden for SFTPC, CHPT1, LPCAT1, or PCYT1B.
conclusionsIn contrast to lethal neonatal RDS resulting from homozygous or compound heterozygous ABCA3 mutations, single ABCA3 mutations are overrepresented among European-descent infants ≥34 weeks' gestation with RDS and account for ~10.9% of the attributable risk among term and late preterm infants. Although ABCA3 mutations are individually rare, they are collectively common among European- and African-descent individuals in the general population.
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.