OBJECTIVE: Surfactant protein B deficiency is a lethal cause of respiratory distress in infancy that results most commonly from a homozygous frameshift mutation (121ins2). Using independent clinical ascertainment and molecular methods in different populations, we sought to determine allele frequency. STUDY DESIGN: Using clinical characteristics of the phenotype of affected infants, we screened the Missouri linked birth-death database (n = 1 052 544) to ascertain potentially affected infants. We used molecular amplification and restriction enzyme digestion of DNA samples from a metropolitan New York birth cohort (n = 6599) to estimate allele frequency. RESULTS: The point estimate and 95% confidence interval of the 121ins2 allele frequency in the Missouri cohort are 1/1000 individuals (.03-5.6/1000) and in the New York cohort are.15/1000 (. 08-.25/1000). These estimates are not statistically different. CONCLUSIONS: The close approximation of these independent estimates suggests accurate gene frequency (approximately one 121ins2 mutation per 1000-3000 individuals) despite its rare occurrence and that this mutation does not account for the majority of full-term infants with lethal respiratory distress.
OBJECTIVE: Surfactant protein B deficiency is a lethal cause of respiratory distress in infancy that results most commonly from a homozygous frameshift mutation (121ins2). Using independent clinical ascertainment and molecular methods in different populations, we sought to determine allele frequency. STUDY DESIGN: Using clinical characteristics of the phenotype of affected infants, we screened the Missouri linked birth-death database (n = 1 052 544) to ascertain potentially affected infants. We used molecular amplification and restriction enzyme digestion of DNA samples from a metropolitan New York birth cohort (n = 6599) to estimate allele frequency. RESULTS: The point estimate and 95% confidence interval of the 121ins2 allele frequency in the Missouri cohort are 1/1000 individuals (.03-5.6/1000) and in the New York cohort are.15/1000 (. 08-.25/1000). These estimates are not statistically different. CONCLUSIONS: The close approximation of these independent estimates suggests accurate gene frequency (approximately one 121ins2 mutation per 1000-3000 individuals) despite its rare occurrence and that this mutation does not account for the majority of full-term infants with lethal respiratory distress.
Authors: Tami H Garmany; Jennifer A Wambach; Hillary B Heins; Julie M Watkins-Torry; Daniel J Wegner; Kate Bennet; Ping An; Garland Land; Ola D Saugstad; Howard Henderson; Lawrence M Nogee; F Sessions Cole; Aaron Hamvas Journal: Pediatr Res Date: 2008-06 Impact factor: 3.756
Authors: Amy D McBee; Daniel J Wegner; Christopher S Carlson; Jennifer A Wambach; Ping Yang; Hillary B Heins; Ola D Saugstad; Michelle A Trusgnich; Julie Watkins-Torry; Lawrence M Nogee; Howard Henderson; F Sessions Cole; Aaron Hamvas Journal: Pediatr Pulmonol Date: 2008-05
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Authors: Aaron Hamvas; Daniel J Wegner; Christopher S Carlson; Kelly R Bergmann; Michelle A Trusgnich; Lucinda Fulton; Yumi Kasai; Ping An; Elaine R Mardis; Richard K Wilson; F Sessions Cole Journal: Pediatr Res Date: 2007-08 Impact factor: 3.756