Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes

Acta Endocrinol (Copenh). 1992 Jan;126(1):7-9. doi: 10.1530/acta.0.1260007.

Abstract

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a disorder with different clinical manifestations, that results from mutations in the P-450(c21) gene. Direct sequence analysis of P-450(c21) genes in a family demonstrates that patients with different clinical forms of congenital adrenal hyperplasia can have identical P-450(c21) genes, suggesting that other effects play a role in developing the different clinical forms.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Hyperplasia, Congenital / enzymology
  • Adrenal Hyperplasia, Congenital / genetics*
  • Bacterial Proteins*
  • Base Sequence
  • Blotting, Southern
  • Child
  • Chromosome Deletion
  • DNA / chemistry
  • Deoxyribonucleases, Type II Site-Specific
  • Exons
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic
  • Steroid 21-Hydroxylase / genetics*

Substances

  • Bacterial Proteins
  • DNA
  • Steroid 21-Hydroxylase
  • BglII endonuclease
  • Deoxyribonucleases, Type II Site-Specific
  • TCGA-specific type II deoxyribonucleases