Deletion Hybrid Genes, due to Unequal Crossing Over betweenCYP11B1(11β-Hydroxylase) andCYP11B2(Aldosterone Synthase) Cause Steroid 11β-Hydroxylase Deficiency and Congenital Adrenal Hyperplasia1

Abstract excerpt

Chromosomal rearrangements are natural experiments that can provide unique insights into in vivo regulation of genes and physiological systems. We have studied a patient with congenital adrenal hyperplasia and steroid 11beta-hydroxylase deficiency who was homozygous for a deletion of the CYP11B1 and CYP11B2 genes normally required for cortisol and aldosterone synthesis, respectively. The genes were deleted by...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adrenal Hormones and Disorders
• Share to Hormonal Regulation and Hypertension
• Share to Pharmacogenetics and Drug Metabolism