Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Cystathionin beta-Synthase

Das CBS-Gen kodiert die Cystathionin beta-Synthase, ein Enzym des Homozystein-Stoffwechsels. Mutationen führen zu einem autosomal rezessiven Mangel, der sich in einer Hymozysteinurie und Thromboseneigung zeigt.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Klassische Homocysteinurie
CBS
Hyperhomozysteinämie bedingte Thrombose
CBS

Referenzen:

1.

Kluijtmans LA et al. (1996) Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

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2.

Kim YJ et al. (1974) On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine beta-synthase from cultured fibroblasts.

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3.

Skovby F et al. (1984) Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA.

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4.

Hu FL et al. (1993) Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.

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5.

Gallagher PM et al. (1995) High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.

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6.

Sebastio G et al. (1995) The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

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7.

Watanabe M et al. (1995) Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia.

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8.

None (1994) Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.

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9.

Kruger WD et al. (1995) A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.

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10.

Tsai MY et al. (1996) High prevalence of a mutation in the cystathionine beta-synthase gene.

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11.

Gaustadnes M et al. (1999) Prevalence of congenital homocystinuria in Denmark.

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12.

Kraus JP et al. (1999) Cystathionine beta-synthase mutations in homocystinuria.

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13.

Kluijtmans LA et al. (1999) The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

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14.

Gaustadnes M et al. (2000) Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants.

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15.

Janosík M et al. (2001) Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.

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16.

Maclean KN et al. (2002) High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.

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17.

Kelly PJ et al. (2003) Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.

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18.

Kruger WD et al. (2003) Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

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19.

Wang L et al. (2005) Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.

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20.

Lee SJ et al. (2005) Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

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21.

Urreizti R et al. (2006) The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

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22.

Kraus J et al. (1978) Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits.

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23.

Kozich V et al. (1992) Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.

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24.

Stubbs L et al. (1990) The alpha-A-crystallin and cystathionine beta-synthase genes are physically very closely linked in proximal mouse chromosome 17.

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25.

Münke M et al. (1988) The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.

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26.

Chadefaux B et al. (1985) Cystathionine beta synthase: gene dosage effect in trisomy 21.

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27.

Goldstein JL et al. (1972) Cystathionine synthase activity in human lymphocytes: induction by phytohemagglutinin.

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28.

Skovby F et al. (1984) Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids.

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29.

Sperandeo MP et al. (1995) Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.

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30.

Chassé JF et al. (1995) Genomic organization of the human cystathionine beta-synthase gene: evidence for various cDNAs.

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31.

Shih VE et al. (1995) A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

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32.

Kraus JP et al. (1993) Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.

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33.

Kruger WD et al. (1994) A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes.

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34.

Avramopoulos D et al. (1993) Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region.

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35.

Kozich V et al. (1993) Molecular defect in a patient with pyridoxine-responsive homocystinuria.

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36.

Kluijtmans LA et al. (1996) Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

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37.

Sperandeo MP et al. (1996) A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.

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38.

Aral B et al. (1997) Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.

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39.

None (1997) The structure of a domain common to archaebacteria and the homocystinuria disease protein.

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40.

Kim CE et al. (1997) Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.

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41.

Chassé JF et al. (1997) Human cystathionine beta-synthase: gene organization and expression of different 5' alternative splicing.

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42.

Shan X et al. (1998) Correction of disease-causing CBS mutations in yeast.

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43.

Kraus JP et al. (1998) The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms.

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44.

Franco RF et al. () Heterogeneous ethnic distribution of the 844ins68 in the cystathionine beta-synthase gene.

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45.

Kery V et al. (1999) Binding of pyridoxal 5'-phosphate to the heme protein human cystathionine beta-synthase.

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46.

Bross P et al. (1999) Protein misfolding and degradation in genetic diseases.

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47.

Shan X et al. (2001) Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.

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48.

Pogribna M et al. (2001) Homocysteine metabolism in children with Down syndrome: in vitro modulation.

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49.

Robert K et al. (2003) Expression of the cystathionine beta synthase (CBS) gene during mouse development and immunolocalization in adult brain.

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50.

Robert K et al. (2003) Altered gene expression in liver from a murine model of hyperhomocysteinemia.

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51.

Scott JW et al. (2004) CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.

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52.

Namekata K et al. (2004) Abnormal lipid metabolism in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia.

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53.

Gupta S et al. (2008) Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.

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54.

Skovby F et al. (2010) A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

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55.

None (2017) Cystathionine β-synthase deficiency: Of mice and men.

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56.

NCBI article

NCBI 875 [^]
57.

OMIM.ORG article

Omim 613381 [^]
Update: 9. Mai 2019