Document Detail

A rare duplicated 21-hydroxylase haplotype and a de novo mutation: a family analysis.
MedLine Citation:
PMID:  12788889     Owner:  NLM     Status:  MEDLINE    
21-Hydroxylase (21-OH) genotyping was performed in clinically unaffected family members of a congenital adrenal hyperplasia (CAH) index patient (Prader stage 3), who is a compound heterozygous carrier of the I172N (exon 4) and the intron2 splicing mutations. Whereas the latter mutation could be traced to the father, the exon 4 aberration represents a de novo mutation (accounting for 1% of CAH alleles) harbored on an unaffected allele, which was inherited from the mother. Although clinically and biochemically unaffected, the patient's brother was found to be compound heterozygous for intron2splice (paternal allele) and Q318X in exon 8 (maternal allele). As shown by PCR-based sequence and Southern blot analysis, the maternal haplotype, inherited by the brother, has a duplicated CYP21B (functional) gene, one of which carries a Q318X mutation. This duplicated Q318X-affected haplotype is the first of its kind among 800 alleles screened for 21-OH deficiency in our laboratory and has to date been reported only in three Swedish CAH patients, all of them bearing an intron2splice and a Q318X mutation. This family analysis highlights the complexity of the CYP21/CYP21P(pseudogene) loci and the difficulties of 21-OH genotyping.
S M Baumgartner-Parzer; P Nowotny; W Waldhäusl; H Vierhapper
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  88     ISSN:  0021-972X     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2003 Jun 
Date Detail:
Created Date:  2003-06-05     Completed Date:  2003-07-01     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:  2794-6     Citation Subset:  AIM; IM    
Department of Internal Medicine III, Division of Clinical Endocrinology and Metabolism, University of Vienna, A-1090 Vienna, Austria.
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MeSH Terms
Base Sequence / genetics
Gene Duplication*
Point Mutation*
Steroid 21-Hydroxylase / genetics*
Reg. No./Substance:
EC 21-Hydroxylase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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