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

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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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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  • DOI: https://doi.org/10.1038/ng0792-239

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