Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families.
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).
Kagimoto
K
K
Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235.
Waterman
M R
MR
Kagimoto
M
M
Ferreira
P
P
Simpson
E R
ER
Winter
J S
JS
D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics; D000446:Aldehyde-Lyases / Q000172:deficiency* / Q000235:genetics; D002170:Canada; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D005006:Ethnicity; D005091:Exons; D006720:Homozygote; D006801:Humans; D009154:Mutation; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics; D013250:Steroid Hydroxylases / Q000172:deficiency*
D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; D013254:Steroid 17-alpha-Hydroxylase; D000446:Aldehyde-Lyases