Population-Based Estimates of Surfactant Protein B Deficiency

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Abstract
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.