Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

Nature Genetics

Volumn 22, Issue 2, 1999, Pages 175-177

  Houten, Sander M ^c   Kuis, Wietse ^a   Duran, Marinus ^a   De Koning, Tom J ^a   Van Royen Kerkhof, Annet ^a   Romeijn, Gerrit J ^c   Frenkel, Joost ^a   Dorland, Lambertus ^a   De Barse, Martina M J ^a   Huijbers, Wim A R ^b   Rijkers, Ger T ^a   Waterham, Hans R ^c   Wanders, Ronald J A ^c   Poll The, Bwee Tien ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b Beatrix Hospital   (Netherlands)

^c Department of General Pediatrics Univ Children's Hosp Het W ^*

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN D; ISOPRENOID; MEVALONIC ACID; PHOSPHOTRANSFERASE;

ARTICLE; CLINICAL ARTICLE; DISEASE ASSOCIATION; ENZYME ACTIVITY; ESCHERICHIA COLI; FEVER; GENE EXPRESSION; GENE MUTATION; HUMAN; HYPERIMMUNOGLOBULINEMIA; IMMUNOBLOTTING; IMMUNOGLOBULIN BLOOD LEVEL; NONHUMAN; PRIORITY JOURNAL; PROTEIN STABILITY; SEQUENCE ANALYSIS; URINALYSIS;

EID: 0032987982     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/9691     Document Type: Article

References (13)

1. van der Meer, J.W.M. et al. Hyperimmunoglobulinemia D and periodic fever: a new syndrome. Lancet 1, 1087-1090 (1984).
2. Drenth, J.P.H., Haagsma, C.J., van der Meer, J.W.M. & The International Hyper-IgD Study Group Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. Medicine 73, 133-144 (1994).
3. Biardi, L. et al. Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisomal disorders. J. Biol. Chem. 269, 1197-1205 (1994).
4. Goldstein, J.L. & Brown, M.S. Regulation of the mevalonate pathway. Nature 343, 425-430 (1990).
5. Hoffmann, G. et al. Mevalonic aciduria - an inborn error of cholesterol and nonsterol isoprene biosynthesis. N. Engl. J. Med. 314, 1610-1614 (1986).
6. Hoffmann, G.F. et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 91, 915-921 (1993).
7. Schafer, B.L. et al. Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. J. Biol. Chem. 267, 13229-13238 (1992).
8. Hinson, D.D. et al. Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency. J. Biol. Chem. 272, 26756-26760 (1997).
9. Centola, M., Aksentijevich, I. & Kastner, D.L. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum. Mol. Genet. 7, 1581-1588 (1998).
10. Lindenthal, B. et al. Urinary excretion of mevalonic acid as an indicator of cholesterol synthesis. J. Lipid Res. 37, 2193-2201 (1996).
11. Hoffmann, G.F. et al. Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. J. Inherit. Metab. Dis. 15, 738-746 (1992).
12. Habig, W.H., Pabst. M.J. & Jakoby, W.B. Glutathione S-transferases. The first enzymatic step in mercapturic acid formation. J. Biol. Chem. 249, 7130-7139 (1974).
13. Ijlst, L., Wanders, R.J.A., Ushikubo, S., Kamijo, T. & Hashimoto, T. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein. Biochim. Biophys. Acta 1215, 347-350 (1994).