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RSH (so-called Smith-Lemli-Opitz) syndrome.
12100 Primary Children's Medical Center, University of Utah, Salt Lake City 84112-1100, USA. ajmg@hsc.utah.edu
Current Opinion in Pediatrics
|August 10, 1999
Summary
Smith-Lemli-Opitz syndrome, a Garrodian inborn error, results from 7-dehydrocholesterol reductase gene mutations. This metabolic disorder impacts cholesterol synthesis and is linked to various skeletal dysplasias.
Area of Science:
- Biochemistry
- Genetics
- Developmental Biology
Background:
- Smith-Lemli-Opitz syndrome (RSH syndrome) is an autosomal recessive genetic disorder.
- It stems from mutations in the 7-dehydrocholesterol reductase gene, impairing cholesterol synthesis.
- This pathway is implicated in several other developmental and skeletal abnormalities.
Purpose of the Study:
- To highlight Smith-Lemli-Opitz syndrome as a model metabolic disorder.
- To discuss its role in a broader pathway of cholesterol biosynthesis defects.
- To underscore the connection between genetic defects and resulting malformations.
Main Methods:
- Review of genetic and biochemical literature on Smith-Lemli-Opitz syndrome.
- Comparative analysis of related metabolic and skeletal dysplasia syndromes.
- Examination of the 7-dehydrocholesterol to cholesterol conversion pathway.
Main Results:
- Smith-Lemli-Opitz syndrome is caused by homozygous mutations in the 7-dehydrocholesterol reductase gene.
- Deficient conversion of 7-dehydrocholesterol to cholesterol is the primary defect.
- This pathway is linked to desmosterolosis, chondrodysplasia punctata, and Greenberg skeletal dysplasia.
Conclusions:
- Smith-Lemli-Opitz syndrome serves as a key example of a metabolic malformation syndrome.
- Further defects within this cholesterol biosynthesis pathway are likely to be identified.
- Understanding these pathways is crucial for diagnosing and potentially treating related genetic disorders.