Medical College of Wisconsin
CTSIResearch InformaticsREDCap

Congenital adrenal hyperplasia: molecular mechanisms resulting in 21-hydroxylase deficiency. Acta Endocrinol Suppl (Copenh) 1986;279:315-20

Date

01/01/1986

Pubmed ID

3022524

DOI

10.1530/acta.0.112s315

Scopus ID

2-s2.0-0022968151 (requires institutional sign-in at Scopus site)   10 Citations

Abstract

21-Hydroxylase deficiency resulting in congenital adrenal hyperplasia (CAH) is a HLA-linked autosomal recessive disorder that has a wide range of phenotypic expression. Two homologous 21-hydroxylase genes (21-OHA and 21-OHB) occur within the Class III region of the major histocompatibility complex, but only one (21-OHB) appears to function in adrenal steroidogenesis. Our restriction maps, and initial sequence data from White et al. (Pediatr Res 20:274A (1986)) for the two human 21-OH genes reveal a high degree of homology between these genes and a reading frame shift mutation in the 21-OHA gene respectively. Among fourteen control subjects, the intragenic restriction patterns of the 21-OHA and 21-OHB genes are invariant. The few restriction fragment length polymorphisms (RFLPs) found in some controls result from polymorphic restriction sites outside the 21-OH genes. In patients with CAH, several different mechanisms for mutation of the 21-OHB gene have been described: deletion of the unique sequences of the 21-OHB gene, conversion of the unique sequences of the 21-OHB gene to those of 21-OHA, and mutations of 21-OHB which do not result in a detectable alteration of restriction pattern (e.g., point mutations). Duplication of the 21-OHA gene has been found in some patients with attenuated CAH; however, the significance of this finding remains unclear.

Author List

Donohoue PA, Van Dop C, Jospe N, Migeon CJ

Author

Patricia Donohoue MD Emeritus Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Adrenal Hyperplasia, Congenital
Base Sequence
DNA
DNA Restriction Enzymes
Humans
Major Histocompatibility Complex
Mutation
Steroid 21-Hydroxylase
Steroid Hydroxylases