Molecular pathology of steroid 21-hydroxylase deficiency

Tom Strachan, Perrin C. White

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

The molecular pathology of steroid 21-hydroxylase deficiency is attributable to unequal crossover-mediated gene deletion or to large- or small-scale replacement of the functional CYP21B gene sequence by a copy of the analogous CYP21A pseudogene sequence. Because the pathological point mutations originate from the pseudogene which shows only a small number of differences from the functional CYP21B gene sequence, the total number of different pathological point mutations is likely to be small. Mutant P450c21 enzymes carrying specific amino acid substitutions seen in patients with 21-hydroxylase deficiency exhibit activities that correlate with the clinical severity of the disease and with biochemical abnormalities such as 17-hydroxyprogesterone levels after ACTH (corticotropin) stimulation.

Original languageEnglish (US)
Pages (from-to)537-543
Number of pages7
JournalJournal of Steroid Biochemistry and Molecular Biology
Volume40
Issue number4-6
DOIs
StatePublished - 1991

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Endocrinology
  • Clinical Biochemistry
  • Cell Biology

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