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Congenital adrenal hyperplasia due to point mutations in the type II 3β–hydroxysteroid dehydrogenase gene

Nature Genetics volume 1, pages 239–245 (1992)Cite this article

Abstract

Classical 3β–hydroxysteroid dehydrogenase /Δ5–Δ4–isomerase (3β–HSD) deficiency is an autosomal recessive form of congenital adrenal hyperplasia characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads. We describe the nucleotide sequence of the two highly homologous genes encoding 3β–HSD isoenzymes in three classic 3β–HSD deficient patients belonging to two apparently unrelated pedigrees. No mutation was detected in the type I 3β–HSD gene, which is mainly expressed in the placenta and peripheral tissues. Both nonsense and frameshift mutations, however, were found in the type II 3β–HSD gene, which is the predominant 3β–HSD gene expressed in the adrenals and gonads, thus providing the first elucidation of the molecular basis of this disorder.

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Authors and Affiliations

  1. Medical Research Council Group in Molecular Endocrinology, CHUL Research Center and Laval University, Québec, G1V 4G2, Canada

    Eric Rhéaume, Jacques Simard & Fernand Labrie

  2. INSERM U329 and Department of Pediatrics, Université de Lyon and Hôpital Debrousse, Lyon Cedex, 05, France

    Yves Morel, Farida Mebarki & Maguelone G. Forest

  3. Department of Pediatrics, University of Zurich and Kinderspital, 8032, Zurich, Switzerland

    Milo Zachmann

  4. Department of Pediatrics, Division of Pediatric Endocrinology, The New York Hospital-Cornell Medical Center, New York, New York, 10021, USA

    Maria I. New

Authors
  1. Eric Rhéaume
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  2. Jacques Simard
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  3. Yves Morel
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  4. Farida Mebarki
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  5. Milo Zachmann
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  6. Maguelone G. Forest
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  7. Maria I. New
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  8. Fernand Labrie
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Rhéaume, E., Simard, J., Morel, Y. et al. Congenital adrenal hyperplasia due to point mutations in the type II 3β–hydroxysteroid dehydrogenase gene. Nat Genet 1, 239–245 (1992). https://doi.org/10.1038/ng0792-239

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