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

Mol Genet Metab. 2001 Aug;73(4):354-7. doi: 10.1006/mgme.2001.3202.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

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

Substances

  • Phosphoproteins
  • steroidogenic acute regulatory protein