Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
| Autor: | Sander M. Houten, Joost Frenkel, G. J. Romeijn, Ronald J.A. Wanders, Maja Di Rocco, Ubaldo Caruso, Janet Koster, Wietse Kuis, Bwee Tien Poll-The, Hans R. Waterham, Richard I. Kelley, K. Michael Gibson, Pierre Landrieu |
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| Přispěvatelé: | Other departments, AGEM - Inborn errors of metabolism, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism |
| Jazyk: | angličtina |
| Rok vydání: | 2001 |
| Předmět: |
DNA
Complementary Genotype Molecular Sequence Data Nonsense mutation Gene Expression Mevalonic Acid Biology medicine.disease_cause Exon Genetics medicine Humans Missense mutation RNA Messenger Genetics (clinical) Mutation Base Sequence Hyper-IgD syndrome Mevalonate kinase Immunoglobulin D Fibroblasts medicine.disease Exon skipping Familial Mediterranean Fever Alternative Splicing Phosphotransferases (Alcohol Group Acceptor) Mevalonic aciduria biology.protein |
| Zdroj: | European journal of human genetics, 9(4), 253-259. Nature Publishing Group |
| ISSN: | 1018-4813 |
| Popis: | Mevalonic aciduria (MA) and hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) are two autosomal recessive inherited disorders both caused by a deficient activity of the enzyme mevalonate kinase (MK) resulting from mutations in the encoding MVK gene. Thus far, disease-causing mutations only could be detected by analysis of MVK cDNA. We now describe the genomic organization of the human MVK gene. It is 22 kb long and contains 11 exons of 46 to 837 bp and 10 introns of 379 bp to 4.2 kb. Three intron-exon boundaries were confirmed from natural splice variants, indicating the occurrence of exon skipping. Sequence analysis of 27 HIDS and MA patients confirmed all previously reported genotypes based on cDNA analysis and identified six novel nucleotide substitutions resulting in missense or nonsense mutations, providing new insights in the genotype/phenotype relation between HIDS and MA. |
| Databáze: | OpenAIRE |
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