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Vol. 63, No. 6, 2005
Issue release date: August 2005
Section title: Case Report
Horm Res 2005;63:284–293
(DOI:10.1159/000087074)

Steroid 11-Beta-Hydroxylase Deficiency Caused by Compound Heterozygosity for a Novel Mutation, p.G314R, in One CYP11B1 Allele, and a Chimeric CYP11B2/CYP11B1 in the Other Allele

Kuribayashi I.a · Nomoto S.a · Massa G.b · Oostdijk W.b · Wit J.M.b · Wolffenbuttel B.H.R.c · Shizuta Y.a · Honke K.a
aDepartment of Molecular Genetics, Kochi University Medical School, Nankoku, Kochi, Japan; bDepartment of Pediatrics, Leiden University Medical Center, Leiden, and cDepartment of Endocrinology, University Hospital Groningen, Groningen, The Netherlands

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Article / Publication Details

First-Page Preview
Abstract of Case Report

Received: 9/27/2004
Accepted: 4/26/2005
Published online: 8/10/2005
Issue release date: August 2005

Number of Print Pages: 10
Number of Figures: 5
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP

Abstract

Aims: Steroid 11β-hydroxylase deficiency (11β-OHD) is the second most common (5–8%) cause of congenital adrenal hyperplasia (CAH), and results from homozygous or compound heterozygous mutations or deletions of the responsible gene CYP11B1. In order to better understand the molecular basis causing 11β-OHD, we performed detailed studies of CYP11B1 in a newly described patient diagnosed with the classical signs of 11β-OHD. Methods:CYP11B1 of the patient was investigated by polymerase chain reaction (PCR), sequencing, restriction fragment length polymorphism (RFLP) analysis, Southern blotting, and transient cell expression. Results: We identified two new mutated alleles in CYP11B1. In one allele CYP11B1 has a g.940G→C (p.G314R) missense mutation. On the other allele we found a chimeric gene that consists of part of the aldosterone synthase gene (CYP11B2) at exons 1–3 and part of the 11β-hydroxylase gene (CYP11B1) at exons 4–9. Inin vitro studies, the g.940G→C (p.G314R) mutation abolished all hydroxylase activity in comparison with the wild-type 11β-hydroxylase. The chimeric CYP11B2/CYP11B1 protein retained 11β-hydroxylase enzymatic activity in vitro. Conclusion: This case is caused by compound heterozygosity for a nonfunctional missense mutation and a chimeric CYP11B2/CYP11B1 gene with hydroxylase activity that is controlled by the CYP11B2 promoter. The most likely explanation is that the CYP11B2 promoter does not function in the zona fasciculata/reticularis where cortisol is exclusively synthesized.

© 2005 S. Karger AG, Basel


  

Author Contacts

Isao Kuribayashi, MD
Department of Molecular Genetics
Kochi University Medical School
Kohasu Oko-cho, Nankoku, Kochi 783-8505 (Japan)
Tel. +81 88 880 2315, Fax +81 88 846 6743, E-Mail kuribaya@med.kochi-u.ac.jp

  

Article Information

Received: September 27, 2004
Accepted: April 26, 2005
Published online: July 15, 2005
Number of Print Pages : 10
Number of Figures : 5, Number of Tables : 1, Number of References : 40

  

Publication Details

Hormone Research (From Developmental Endocrinology to Clinical Research)

Vol. 63, No. 6, Year 2005 (Cover Date: Released August 2005)

Journal Editor: Czernichow, P. (Paris)
ISSN: 0301–0163 (print), 1423–0046 (Online)

For additional information: http://www.karger.com/hre


Article / Publication Details

First-Page Preview
Abstract of Case Report

Received: 9/27/2004
Accepted: 4/26/2005
Published online: 8/10/2005
Issue release date: August 2005

Number of Print Pages: 10
Number of Figures: 5
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP


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