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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Population and disease-based prevalence of the common mutations associated with surfactant deficiency
Pediatric Research, Volume 63, No. 6, Year 2008
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Description
The prevalence of the common mutations in the surfactant protein-B (121ins2), surfactant protein-C (I73T), and ATP-binding cassette member A3 (E292V) genes in population-based or case-control cohorts of newborn respiratory distress syndrome (RDS) is unknown. We determined the frequencies of these mutations in ethnically diverse population and disease-based cohorts using restriction enzyme analysis (121ins2 and E292V) and a 5′ nuclease assay (I73T) in DNA samples from population-based cohorts in Missouri, Norway, South Korea, and South Africa, and from a case-control cohort of newborns with and without RDS (n = 420). We resequenced the ATP-binding cassette member A3 gene (ABCA3) in E292V carriers and computationally inferred ABCA3 haplotypes. The population-based frequencies of 121ins2, E292V, and I73T were rare (<0.4%). E292V was present in 3.8% of newborns with RDS, a 10-fold greater prevalence than in the Missouri cohort (p < 0.001). We did not identify other loss of function mutations in ABCA3 among patients with E292V that would account for their RDS. E292V occurred on a unique haplotype that was derived from a recombination of two common ABCA3 haplotypes. E292V was over-represented in newborns with RDS suggesting that E292V or its unique haplotype impart increased genetic risk for RDS. Copyright © 2008 International Pediatric Research Foundation, Inc.
Authors & Co-Authors
Garmany, Tami H.
United States, St. Louis
Washington University School of Medicine in St. Louis
Wambach, Jennifer Anne
United States, St. Louis
Washington University School of Medicine in St. Louis
Heins, Hillary B.
United States, St. Louis
Washington University School of Medicine in St. Louis
Watkins-Torry, Julie M.
United States, St. Louis
Washington University School of Medicine in St. Louis
Wegner, Daniel James
United States, St. Louis
Washington University School of Medicine in St. Louis
Bennet, Kate
United States, St. Louis
Washington University School of Medicine in St. Louis
An, Ping
United States, St. Louis
Washington University School of Medicine in St. Louis
Land, Garland
United States, Jefferson City
Missouri Department of Health and Senior Services
Saugstad, Ola Didrik
Norway, Oslo
Universitetet I Oslo
Henderson, Howard E.
South Africa, Cape Town
University of Cape Town
Nogee, Lawrence M.
United States, Baltimore
Johns Hopkins University
Cole, F. Sessions
United States, St. Louis
Washington University School of Medicine in St. Louis
Hamvas, Aaron E.
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, St. Louis
St. Louis Children's Hospital
Statistics
Citations: 91
Authors: 13
Affiliations: 6
Identifiers
Doi:
10.1203/PDR.0b013e31816fdbeb
ISSN:
00313998
e-ISSN:
15300447
Research Areas
Genetics And Genomics
Study Design
Cross Sectional Study
Cohort Study
Case-Control Study
Study Locations
South Africa