Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management
Open Access
- 20 February 2008
- journal article
- review article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 16 (5) , 535-541
- https://doi.org/10.1038/ejhg.2008.10
Abstract
Smith–Lemli–Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol reductase (DHCR7). DHCR7 primarily catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. In SLOS, this results in decreased cholesterol and increased 7DHC levels, both during embryonic development and after birth. The malformations found in SLOS may result from decreased cholesterol, increased 7DHC or a combination of these two factors. This review discusses the clinical aspects and diagnosis of SLOS, therapeutic interventions and the current understanding of pathophysiological processes involved in SLOS.Keywords
This publication has 51 references indexed in Scilit:
- Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populationsJournal of Medical Genetics, 2007
- Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith–Lemli–Opitz syndrome (SLOS)American Journal of Medical Genetics Part A, 2007
- Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS)Journal of Inherited Metabolic Disease, 2007
- DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients?American Journal of Medical Genetics Part A, 2006
- Repression of Smoothened by Patched-Dependent (Pro-)Vitamin D3 SecretionPLoS Biology, 2006
- The near universal presence of autism spectrum disorders in children with Smith–Lemli–Opitz syndromeAmerican Journal of Medical Genetics Part A, 2006
- Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsivenessThe Journal of Experimental Medicine, 2006
- DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndromeJournal of Medical Genetics, 2005
- Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-Δ7-reductase deficiency (Smith–Lemli–Opitz syndrome)The Journal of Steroid Biochemistry and Molecular Biology, 2002
- A newly recognized syndromeof multiple congenital anomaliesThe Journal of Pediatrics, 1964