Gail E. Herman, M.D., Ph.D. is a clinical and biochemical geneticist with research interests in mouse models of cholesterol biosynthesis disorders.
Disorders of sterol synthesis: Beyond Smith–Lemli–Opitz syndrome†
Article first published online: 5 OCT 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Synthesis
Volume 160C, Issue 4, pages 301–321, 15 November 2012
How to Cite
Herman, G. E. and Kratz, L. (2012), Disorders of sterol synthesis: Beyond Smith–Lemli–Opitz syndrome. Am. J. Med. Genet., 160C: 301–321. doi: 10.1002/ajmg.c.31340
How to Cite this Article: Herman GE, Kratz L. 2012. Disorders of sterol synthesis: Beyond Smith–Lemli–Opitz syndrome. Am J Med Genet Part C Semin Med Genet 160C: 301–321.
- Issue published online: 22 OCT 2012
- Article first published online: 5 OCT 2012
- disorder of sterol synthesis;
- SC4MOL deficiency;
- CK syndrome;
Since the discovery in 1993 that Smith–Lemli–Opitz syndrome (SLOS) is a disorder of cholesterol biosynthesis, human disorders associated with additional enzymes involved in the conversion of lanosterol to cholesterol have been identified. This review will focus primarily on the clinical aspects of these disorders, highlighting newly described syndromes, such as SC4MOL deficiency and CK syndrome. We will also provide clinical descriptions of additional cases for extremely rare disorders, such as desmosterolosis. We will compare and contrast the findings with those found in SLOS and briefly discuss possible mechanisms of disease pathogenesis. © 2012 Wiley Periodicals, Inc.