Achermann, JC and Meeks, JJ and Jeffs, B and Das, U and Clayton, PE and Brook, CGD and Jameson, JL (2001) Molecular and structural analysis of two novel STAR mutations in patients with lipoid congenital adrenal hyperplasia. MOL GENET METAB , 73 (4) 354 - 357. 10.1006/mgme.2001.3202.
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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. (C) 2001 Academic Press.
| Type: | Article |
|---|---|
| Title: | Molecular and structural analysis of two novel STAR mutations in patients with lipoid congenital adrenal hyperplasia |
| DOI: | 10.1006/mgme.2001.3202 |
| Keywords: | StAR, lipoid congenital adrenal hyperplasia, lipid transfer domain, adrenal, testis, parotid tumor, ACUTE REGULATORY PROTEIN, GENE, STEROIDOGENESIS, MECHANISM |
| UCL classification: | UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Medicine (Division of) UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Genes, Development and Disease > ICH - Clinical and Molecular Genetics |
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