Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis
Copyright policy )Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis
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.
- Radboud University Nijmegen Netherlands
Central Nervous System, Adult, Cerebrotendineuze xanthomatosis (CTX), Pregnancy Complications, Cardiovascular, Inborn errors of metabolism, Metabolic Diseases, Cytochrome P-450 Enzyme System, Humans, Genetics, Biochemical, Neural Tube Defects, Vascular Diseases, Metabolic Processes (Non MeSH), Muscle, Skeletal, Erfelijke stofwisselingsziekten, Hereditary Diseases, Polymorphism, Single-Stranded Conformational, Mental Disorders, Mitochondrial Myopathies, Neuromuscular Diseases, Exons, Xanthomatosis, Cerebrotendinous, Fibroblasts, Middle Aged, Mitochondria, Mutagenesis, Chemistry, Clinical, Mutation, Steroid Hydroxylases, Cholestanetriol 26-Monooxygenase, Homocystinuria, Cerebrotendinous xanthomatosis (CTX), Female, Energy Metabolism, Metabolism, Inborn Errors
Central Nervous System, Adult, Cerebrotendineuze xanthomatosis (CTX), Pregnancy Complications, Cardiovascular, Inborn errors of metabolism, Metabolic Diseases, Cytochrome P-450 Enzyme System, Humans, Genetics, Biochemical, Neural Tube Defects, Vascular Diseases, Metabolic Processes (Non MeSH), Muscle, Skeletal, Erfelijke stofwisselingsziekten, Hereditary Diseases, Polymorphism, Single-Stranded Conformational, Mental Disorders, Mitochondrial Myopathies, Neuromuscular Diseases, Exons, Xanthomatosis, Cerebrotendinous, Fibroblasts, Middle Aged, Mitochondria, Mutagenesis, Chemistry, Clinical, Mutation, Steroid Hydroxylases, Cholestanetriol 26-Monooxygenase, Homocystinuria, Cerebrotendinous xanthomatosis (CTX), Female, Energy Metabolism, Metabolism, Inborn Errors
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