Smith–Lemli–Opitz syndrome
| Smith–Lemli–Opitz syndrome | |
|---|---|
| Other names | SLOS, or 7-dehydrocholesterol reductase deficiency |
| Child with Smith-Lemli-Opitz syndrome | |
| Specialty | Medical genetics |
| Usual onset | Present at birth |
| Frequency | 1 in 20,000 to 1 in 60,000 |
Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis.[1] It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene. It causes a broad spectrum of effects, ranging from mild intellectual disability and behavioural problems to lethal malformations.[2]
- ^ Correa-Cerro, Lina S.; Porter, Forbes D. (2005). "3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome". Molecular Genetics and Metabolism. 84 (2): 112–26. doi:10.1016/j.ymgme.2004.09.017. PMID 15670717.
- ^ Porter, Forbes D (2008). "Smith–Lemli–Opitz syndrome: Pathogenesis, diagnosis and management". European Journal of Human Genetics. 16 (5): 535–41. doi:10.1038/ejhg.2008.10. PMID 18285838.