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. © 2001 Academic Press.
Original language | English |
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Pages (from-to) | 354-357 |
Number of pages | 3 |
Journal | Molecular genetics and metabolism |
Volume | 73 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2001 |
Keywords
- Adrenal
- Lipid transfer domain
- Lipoid congenital adrenal hyperplasia
- Parotid tumor
- StAR
- Testis