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

John C. Achermann, Joshua J. Meeks, Baxter Jeffs, Urmi Das, Peter E. Clayton, Charles G.D. Brook, J. Larry Jameson*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)354-357
Number of pages4
JournalMolecular Genetics and Metabolism
Volume73
Issue number4
DOIs
StatePublished - 2001

Keywords

  • Adrenal
  • Lipid transfer domain
  • Lipoid congenital adrenal hyperplasia
  • Parotid tumor
  • StAR
  • Testis

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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