Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a disorder with different clinical manifestations, that results from mutations in the P-450(c21) gene. Direct sequence analysis of P-450(c21) genes in a family demonstrates that patients with different clinical forms of congenital adrenal hyperplasia can have identical P-450(c21) genes, suggesting that other effects play a role in developing the different clinical forms.
Bormann
M
M
Institut für Klinische Biochemie, Universität Bonn, Germany.
Kochhan
L
L
Knorr
D
D
Bidlingmaier
F
F
Olek
K
K
D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics*; D001426:Bacterial Proteins; D001483:Base Sequence; D015139:Blotting, Southern; D002648:Child; D002872:Chromosome Deletion; D004247:DNA / Q000737:chemistry; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D001426:Bacterial Proteins; D004247:DNA; D013255:Steroid 21-Hydroxylase; C024404:BglII endonuclease; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases