Article
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Human mutation - 1 Aug 2006
Mandey Saskia H L, Schneiders Marit S, Koster Janet, Waterham Hans R
Abstract excerpt
Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase (MK). Depending on the clinical severity, MKD may present as hyper-IgD and periodic fever syndrome (HIDS) or the more severe mevalonic aciduria (MA). We analyzed the MVK gene in 57 patients with MKD and found 39 different mutations...
Topics
- Alleles
- Cell Line
- DNA Mutational Analysis
- Deficiency Diseases
- Enzyme Stability
- Fibroblasts
- Gene Frequency
- Genotype
- Humans
- Mutation
- Phenotype
- Phosphotransferases (Alcohol Group Acceptor)
- Polymorphism, Genetic
- Protein Folding