Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10834893 | Molecular Genetics and Metabolism | 2005 | 8 Pages |
Abstract
Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterised by craniofacial dysmorphism, mental retardation, multiple congenital anomalies, and increased levels of 7-dehydrocholesterol (7-DHC) in body tissues and fluids. SLO is caused by mutations in the DHCR7 gene which encodes 7-dehydrocholesterol reductase, the last enzyme of cholesterol biosynthesis pathway. In our investigation, we screened 682 dysmorphic/mentally retarded Portuguese patients for abnormal levels of 7-DHC in blood by UV spectrometry. We identified six unrelated patients with SLO (0.87% of total). Mutational analysis of the DHCR7 gene led to the identification of seven distinct mutations, three of which are new (F174S, H301R, and Q98X). The common IVS8-1GÂ >Â C and T93M variants together with the H301R accounted for 70% of the all SLO alleles in our population. Our findings contribute to the variegate array of pathological changes in the DHCR7 gene among different European populations.
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Authors
M.L. Cardoso, A. Balreira, E. Martins, L. Nunes, A. Cabral, M. Marques, M. Reis Lima, J.S. Marques, A. Medeira, I. Cordeiro, S. Pedro, M.C. Mota, C. Dionisi-Vici, F.M. Santorelli, C. Jakobs, P.T. Clayton, L. Vilarinho,