Summary
During the course of studies to characterize mutations of the CYP17 gene that cause the 17α-hydroxylase-deficient form of congenital adrenal hyperplasia we have discovered two ostensibly unrelated Mennonite families in which affected individuals are homozygous for the same mutation. The defect is a four-base duplication in exon 8 of the CYP17 gene, which alters the reading frame encoding the C-terminal 26 animo acids of cytochrome P45017α.
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Kagimoto, K., Waterman, M.R., Kagimoto, M. et al. Identification of a common molecular basis for combined 17α-hydroxylase/17,20-lyase deficiency in two Mennonite families. Hum Genet 82, 285–286 (1989). https://doi.org/10.1007/BF00291172
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DOI: https://doi.org/10.1007/BF00291172