A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess

J Clin Endocrinol Metab. 1995 Jul;80(7):2263-6. doi: 10.1210/jcem.80.7.7608290.

Abstract

A mutation in the HSD11B2 gene has been discovered in a consanguineous Iranian family with three sibs suffering from Apparent Mineralocorticoid Excess (AME). Sequence data demonstrate a C to T transition resulting in an R337C mutation.

Publication types

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

MeSH terms

  • 11-beta-Hydroxysteroid Dehydrogenases
  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Child, Preschool
  • Codon
  • Consanguinity
  • DNA Primers
  • Female
  • Humans
  • Hydroxysteroid Dehydrogenases / genetics*
  • Isoenzymes / genetics*
  • Male
  • Metabolism, Inborn Errors / blood
  • Metabolism, Inborn Errors / genetics*
  • Mineralocorticoids / blood*
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction

Substances

  • Codon
  • DNA Primers
  • Isoenzymes
  • Mineralocorticoids
  • Hydroxysteroid Dehydrogenases
  • 11-beta-Hydroxysteroid Dehydrogenases