Article
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
American journal of human genetics - 1 Feb 2000
Witsch-Baumgartner M, Fitzky B U, Ogorelkova M, Kraft H G, Moebius F F, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann G F, Clayton P, Kelley R I, Utermann G
Abstract excerpt
Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive malformation syndrome, ranges in clinical severity from mild dysmorphism and moderate mental retardation to severe congenital malformation and intrauterine lethality. Mutations in the gene for Delta7-sterol reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis in the endoplasmic reticulum (ER), cause SLOS. We have determined, in 84...
Topics
- Adolescent
- Adult
- Age of Onset
- Cell Line
- Child
- Child, Preschool
- Cholesterol
- Codon, Nonsense
- DNA Mutational Analysis
- Exons