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.
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Lipoid CAH has been reported in most ethnic groups but is common among the Japanese, Korean, and Palestinian Arab populations.
“Lipoid CAH has been reported in most ethnic groups but is common among the Japanese, Korean, and Palestinian Arab populations1,3,4,10,11,13,29,30,31,32).”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [31]
Lipoid CAH is common in Japan and Korea.
“Lipoid CAH is the most fatal form of CAH and is common in Japan and Korea.”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [31]
Cites
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Baker, B. Y., Lin, L., Kim, C. J., Raza, J., Smith, C. P., Miller, W. L., & Achermann, J. C. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1565 · Cited by 194 · see citing works
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- Authors
- Achermann, J. C., Meeks, J. J., Jeffs, B., Das, U., Clayton, P. E., Brook, C. G. D., & Jameson, J. L.
- Affiliations
- Northwestern University (US)
- University of Manchester (GB)
- University College London (GB)
- Corresponding author
- Jameson, J.Larry
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2001-08
- Volume
- 73
- Issue
- 4
- Pages
- 354-357
- ISSN
- 1096-7192 (ISSN-L)
- OpenAlex
- W1964632282
- Cited by
- 28
- References
- 17
- Citations by year
- 2026: 1 · 2022: 2 · 2020: 2 · 2019: 1 · 2017: 2 · 2016: 1 · 2015: 1 · 2014: 3 · 2013: 2
- FWCI
- 1.39
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Genetics and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- University of Pennsylvania
- Wellcome Trust
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD29164, P01HD021921, U54HD029164, P01HD21921)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital lipoid adrenal hyperplasia, steroidogenic acute regulatory protein, STAR gene, splice site mutation, cholesterol transport, steroidogenesis, Addison's disease, parotid gland tumors
- MeSH terms
- Steroidogenic Acute Regulatory Protein, Adrenal Hyperplasia, Congenital, Base Sequence, Child, Preschool, Consanguinity, Exons, Female, Homozygote, Humans, Infant, Infant, Newborn, Karyotyping, Male, Models, Molecular, Nuclear Family, Pedigree, Phosphoproteins, Protein Conformation, Seminiferous Tubules, Point Mutation
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