Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene

Nat Genet. 1992 Jul;1(4):239-45. doi: 10.1038/ng0792-239.

Abstract

Classical 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase (3 beta-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 3 beta-HSD isoenzymes in three classic 3 beta-HSD deficient patients belonging to two apparently unrelated pedigrees. No mutation was detected in the type I 3 beta-HSD gene, which is mainly expressed in the placenta and peripheral tissues. Both nonsense and frameshift mutations, however, were found in the type II 3 beta-HSD gene, which is the predominant 3 beta-HSD gene expressed in the adrenals and gonads, thus providing the first elucidation of the molecular basis of this disorder.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Hydroxysteroid Dehydrogenases / genetics*
  • 3-Hydroxysteroid Dehydrogenases / metabolism
  • Adrenal Hyperplasia, Congenital / enzymology*
  • Adrenal Hyperplasia, Congenital / genetics*
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Codon / genetics
  • Female
  • Humans
  • Isoenzymes / genetics*
  • Isoenzymes / metabolism
  • Male
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length

Substances

  • Codon
  • Isoenzymes
  • Oligodeoxyribonucleotides
  • 3-Hydroxysteroid Dehydrogenases