Abstract
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).
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adrenal Hyperplasia, Congenital* / enzymology
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Adrenal Hyperplasia, Congenital* / genetics
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Aldehyde-Lyases / deficiency*
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Aldehyde-Lyases / genetics
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Canada
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Cytochrome P-450 Enzyme System / genetics
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Ethnicity*
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Exons
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Homozygote
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Humans
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Mutation
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Steroid 17-alpha-Hydroxylase / genetics
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Steroid Hydroxylases / deficiency*
Substances
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Cytochrome P-450 Enzyme System
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Steroid Hydroxylases
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Steroid 17-alpha-Hydroxylase
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Aldehyde-Lyases