Human Molecular Genetics, Vol 6, 1829-1834, Copyright © 1997 by Oxford University Press
K Joehrer, S Geley, EM Strasser-Wozak, R Azziz, HA Wollmann, K Schmitt, R Kofler and PC White
Steroid 11 beta-hydroxylase deficiency is the second most common cause of
congenital adrenal hyperplasia, the inherited inability to synthesize
cortisol. Severely affected patients carry mutations in the CYB11B1 gene
that destroy enzymatic activity. Such patients have signs of androgen
excess and usually have hypertension. Mild or non-classic 11
beta-hydroxylase deficiency has been reported previously but not studied
genetically. In this study we report analysis of the CYP11B1 genes of three
patients thought to suffer from non-classic 11 beta- hydroxylase
deficiency. Mutations were detected in the CYP11B1 genes of two patients.
One was a compound heterozygote for missense mutations N133H and T319M,
whereas the other carried a nonsense mutation (Y423X) on one allele and a
missense mutation (P42S) on the other. All three missense mutations
affected enzymatic activity when expressed in vitro. No mutations were
detected in the coding regions or intron-exon boundaries of the CYP11B1
genes of the other putative non-classic patient. In addition, we were
unable to detect CYP11B1 mutations in two hirsute women with mildly
elevated levels of 11 beta-hydroxylase precursors who had previously been
identified in a screening study of patients in a reproductive endocrinology
clinic. We conclude that nonclassic 11 beta-hydroxylase deficiency is a
rare disorder. It is not a significant cause of hyperandrogenism in women
and relatively stringent criteria should be used to prevent its
misdiagnosis.
ARTICLES
CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency
Institute for General and Experimental Pathology, University of Innsbruck, Medical School, Austria.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  L.-L. Wang, Y. Li, and S.-F. Zhou A Bioinformatics Approach for the Phenotype Prediction of Nonsynonymous Single Nucleotide Polymorphisms in Human Cytochromes P450 Drug Metab. Dispos., May 1, 2009; 37(5): 977 - 991. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. J. Mullins, M. A. Bailey, and J. J. Mullins Hypertension, Kidney, and Transgenics: A Fresh Perspective Physiol Rev, April 1, 2006; 86(2): 709 - 746. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. Krone, F. G. Riepe, D. Gotze, E. Korsch, M. Rister, J. Commentz, C.-J. Partsch, J. Grotzinger, M. Peter, and W. G. Sippell Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in the CYP11B1 Gene J. Clin. Endocrinol. Metab., June 1, 2005; 90(6): 3724 - 3730. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. C. White and W. E. Rainey Polymorphisms in CYP11B Genes and 11-Hydroxylase Activity J. Clin. Endocrinol. Metab., February 1, 2005; 90(2): 1252 - 1255. [Full Text] [PDF]
|
|
|
|
|
|
M. Hampf, N. T. N. Dao, N. T. Hoan, and R. Bernhardt Unequal Crossing-Over between Aldosterone Synthase and 11{beta}-Hydroxylase Genes Causes Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., September 1, 2001; 86(9): 4445 - 4452. [Abstract] [Full Text] [PDF]
|
|