title: 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.affiliation: Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Medical School, 250 East Superior Street, Chicago, IL 60611, USA.
authors.forename: J C
authors.initials: JC
authors.lastname: Achermann
authors.forename: J J
authors.initials: JJ
authors.lastname: Meeks
authors.forename: B
authors.initials: B
authors.lastname: Jeffs
authors.forename: U
authors.initials: U
authors.lastname: Das
authors.forename: P E
authors.initials: PE
authors.lastname: Clayton
authors.forename: C G
authors.initials: CG
authors.lastname: Brook
authors.forename: J L
authors.initials: JL
authors.lastname: Jameson
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D002675:Child, Preschool; D003241:Consanguinity; D005091:Exons / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008958:Models, Molecular; D009679:Nuclear Family; D010375:Pedigree; D010750:Phosphoproteins / Q000032:analysis / Q000737:chemistry / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D011487:Protein Conformation; D012671:Seminiferous Tubules / Q000737:chemistry / Q000473:pathology; D000098682:Steroidogenic Acute Regulatory Protein
chemical_list: D010750:Phosphoproteins; D000098682:Steroidogenic Acute Regulatory Protein