Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mevalonatkinase

Das MVK-gen kodiert die Mevalonatkinase ein Schlüsselenzym bei der Synthese der Sterole. Mutationen führen zu verschiedenen dominanten oder Rezessiven Erkrankungen, die vor allem durch eine gestörte Regulation der Entzündungsprozesse gekennzeichnet sind.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Mevalonsäure-Azidurie
MVK
Porokeratose 3
MVK
Hyper-IgD-Syndrom
MVK

Referenzen:

1.

Houten SM et al. (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

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2.

Drenth JP et al. (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

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3.

Houten SM et al. (1999) Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

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4.

Hinson DD et al. (1999) Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

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5.

Houten SM et al. (2001) Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

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6.

Cuisset L et al. (2001) Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

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7.

Houten SM et al. (2002) Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome.

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8.

Prietsch V et al. (2003) Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

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9.

Schafer BL et al. (1992) Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

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10.

Wu LQ et al. (2004) Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1.

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11.

D'Osualdo A et al. (2005) MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

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12.

Balgobind B et al. (2005) Retinitis pigmentosa in mevalonate kinase deficiency.

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13.

Mandey SH et al. (2006) Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

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14.

Zhang SQ et al. (2012) Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.

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15.

Siemiatkowska AM et al. (2013) Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

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16.

Fredonnet J et al. (2014) Topographical and nano-mechanical characterization of native corneocytes using atomic force microscopy.

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17.

van der Meer JW et al. (1984) Hyperimmunoglobulinaemia D and periodic fever: a new syndrome.

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18.

Krisans SK et al. (1994) Farnesyl-diphosphate synthase is localized in peroxisomes.

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19.

Drenth JP et al. (1994) Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group.

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20.

Hoffmann GF et al. (1993) Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

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21.

Gibson KM et al. (1997) Mevalonate kinase map position 12q24.

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