Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia.

Abstract

Mutations in the gene encoding steroidogenic acute regulatory protein (StAR) cause lipoid congenital adrenal hyperplasia. We report a novel homozygous splice site mutation (IVS1 + 2T --> G) in STAR in two sisters (46XY, 46XX) who presented with primary adrenal insufficiency at birth and a novel homozygous R182H missense mutation in the putative lipid transfer domain of StAR in a phenotypic female (46XY) with adrenal failure and a parotid tumor. These cases highlight the importance of StAR-dependent steroidogenesis during fetal development and early infancy and of the critical functional role of R182 in cholesterol transport.

• Authors: J C Achermann, J J Meeks, B Jeffs, U Das, P E Clayton, C G Brook, J L Jameson
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 73 Issue 4 Pg. 354-7 (Aug 2001) ISSN: 1096-7192 [Print] United States
• PMID: 11509019 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
• Copyright: Copyright 2001 Academic Press.

Chemical References

• Phosphoproteins
• steroidogenic acute regulatory protein

Topics

• Adrenal Hyperplasia, Congenital (genetics, pathology)
• Base Sequence
• Child, Preschool
• Consanguinity
• Exons (genetics)
• Female
• Homozygote
• Humans
• Infant
• Infant, Newborn
• Karyotyping
• Male
• Models, Molecular
• Nuclear Family
• Pedigree
• Phosphoproteins (analysis, chemistry, genetics)
• Point Mutation (genetics)
• Protein Conformation
• Seminiferous Tubules (chemistry, pathology)