Two new mutations in the sterol 27-hydroxylase gene in two famlies lead to cerebrotendinous xanthomatosis
| Autor: | Aad Verrips, L.P.W.J. van den Heuvel, Antoine Keyser, Fons J. M. Gabreëls, Ron A. Wevers, J.A.F.M. Luyten, G.C.H. Steenbergen-Spanjers |
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| Rok vydání: | 1996 |
| Předmět: |
Adult
Cerebrotendineuze xanthomatosis (CTX) Inborn errors of metabolism Biology Compound heterozygosity medicine.disease_cause Cerebrotendinous Xanthomatosis Frameshift mutation Exon Cytochrome P-450 Enzyme System Genetics medicine Humans Erfelijke stofwisselingsziekten Genetics (clinical) Polymorphism Single-Stranded Conformational Mutation Exons Xanthomatosis Cerebrotendinous Middle Aged Stop codon FokI Restriction enzyme Mutagenesis Steroid Hydroxylases biology.protein Cholestanetriol 26-Monooxygenase Cerebrotendinous xanthomatosis (CTX) Female |
| Zdroj: | Human Genetics, 98, pp. 735-737 Human Genetics, 98, 735-737 |
| ISSN: | 0340-6717 |
| Popis: | This report concerns two new mutations in the sterol 27-hydroxylase gene in two patients with cerebrotendinous xanthomatosis (CTX). In a Surinam-Creole patient (patient A), a G deletion on position cDNA 546/547 in exon 3 led to a frameshift and the introduction of a premature termination codon. In a Dutch patient (patient B), a C--T transition at position 496 in exon 3 also led to a premature termination codon. Patient A was homozygous for the mutation, whereas patient B was compound heterozygous, a C--T transition also being found in exon 6 at position 1204. The two new mutations were confirmed by restriction analysis with the restriction enzymes FokI and MaeI, respectively. |
| Databáze: | OpenAIRE |
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