Michael Waterman
Faculty Member
Last active: 2/12/2015

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

Kagimoto K, Waterman MR, Kagimoto M, Ferreira P, Simpson ER, Winter JS
Hum Genet. 1989 82 (3): 285-6

PMID: 2786493 · DOI:10.1007/bf00291172

During the course of studies to characterize mutations of the CYP17 gene that cause the 17 alpha-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 amino acids of cytochrome P450(17 alpha).

MeSH Terms (11)

Adrenal Hyperplasia, Congenital Aldehyde-Lyases Canada Cytochrome P-450 Enzyme System Ethnic Groups Exons Homozygote Humans Mutation Steroid 17-alpha-Hydroxylase Steroid Hydroxylases

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