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.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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.

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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.

[^]
10.

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

[^]
11.

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.

[^]
12.

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

[^]
13.

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

[^]
14.

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.

[^]
15.

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.

[^]
16.

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

[^]
17.

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

[^]
18.

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

[^]
19.

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.

[^]
20.

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.

[^]
21.

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

[^]
22.

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

[^]
23.

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.

[^]
24.

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

[^]
25.

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

[^]
26.

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.

[^]
27.

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.

[^]
28.

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

[^]
29.

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

[^]
30.

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

[^]
31.

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

[^]
32.

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

[^]
33.

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

[^]
34.

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

[^]
35.

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

[^]
36.

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

[^]
37.

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.

[^]
38.

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

[^]
39.

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

[^]
40.

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

[^]
41.

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

[^]
42.

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

[^]
43.

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.

[^]
44.

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

[^]
45.

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

[^]
46.

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

[^]
47.

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

[^]
48.

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

[^]
49.

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

[^]
50.

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

[^]
51.

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

[^]
52.

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.

[^]
53.

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

[^]
54.

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

[^]
55.

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

[^]
Update: 27. März 2019