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Identification of a common molecular basis for combined 17α-hydroxylase/17,20-lyase deficiency in two Mennonite families

Research paper by Keiko Kagimoto, Michael R. Waterman, Masaaki Kagimoto, P. Ferreira, Evan R. Simpson, Jeremy S. D. Winter

Indexed on: 01 Jun '89Published on: 01 Jun '89Published in: Human Genetics



Abstract

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.