Document Detail

Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.
MedLine Citation:
PMID:  11600539     Owner:  NLM     Status:  MEDLINE    
This study attempted an analysis of the mutational spectrum of 21-hydroxylase deficiency in 79 unrelated Austrian patients with classical and nonclassical forms of congenital adrenal hyperplasia and their respective 112 family members. Apparent large gene deletions/conversions were present in 31% of the 158 unrelated congenital adrenal hyperplasia alleles, whereas the most frequent point mutations were intron 2 splice (22.8%), I172N (15.8%), V281L (12%), and P30L (7.6%), in line with the frequencies reported for other countries. In 5 of the 12 congenital adrenal hyperplasia alleles carrying a P30L mutation the aberration is based on a single base substitution, whereas the remaining 7 represent part of a CYP21B conversion (1 allele) or CYP21B/21A hybrid gene (6 alleles), the latter characterized by a junction site before intron 2 as indicated by Southern blot, PCR, and sequence analyses. Previously described mutations were not present in 1.2% of unrelated congenital adrenal hyperplasia alleles, including one female patient presenting with severe genital virilization. Sequence analysis of the complete functional 21-hydroxylase gene revealed an as yet undescribed mutation in exon 10-Arg(426)His, which has not yet been described to represent a common pseudogene sequence. In vitro expression experiments showed the Arg(426)His mutant to exhibit only low enzyme activity toward the natural substrate 17-hydroxyprogesterone corresponding to the degree of disease manifestation in the patient in whom it was found.
S M Baumgartner-Parzer; E Schulze; W Waldhäusl; S Pauschenwein; S Rondot; P Nowotny; K Meyer; H Frisch; F Waldhauser; H Vierhapper
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  86     ISSN:  0021-972X     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2001 Oct 
Date Detail:
Created Date:  2001-10-15     Completed Date:  2001-11-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  4771-5     Citation Subset:  AIM; IM    
Department of Internal Medicine III, Division of Endocrinology and Metabolism, University of Vienna, Waeringer Guertel 18-20, A-1090 Vienna, Austria.
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MeSH Terms
Adrenal Hyperplasia, Congenital / genetics*
Mutation, Missense*
Polymerase Chain Reaction
Steroid 21-Hydroxylase / genetics*,  metabolism
Reg. No./Substance:
EC 21-Hydroxylase

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