Characterization of cystathionine β-synthase gene mutations in homocystinuric Venezuelan patients: Identification of one novel mutation in exon 6

Molecular Genetics and Metabolism

Volumn 81, Issue 3, 2004, Pages 209-215

  De Lucca, Marisel ^a   Casique, Liliana ^a  

^a Instituto Internacional de Estudios Avanzados IDEA   (Venezuela)

Author keywords

Cystathionine synthase; Homocystinuria; Mutation analysis; Single strand conformational polymorphism; Venezuela

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

ARTICLE; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; CPG ISLAND; DEMOGRAPHY; DNA POLYMORPHISM; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; HOMOCYSTINURIA; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RESTRICTION MAPPING; SCREENING TEST; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; VENEZUELA;

EID: 1242338015     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2003.12.003     Document Type: Article

References (25)

1. Mudd S.H., Levy H.L., Kraus J.P. Disorders of transsulfuration. Scriver C.R., Beaudet A.L., Valle D., Sly W.S. The Metabolic and Molecular Bases of Inherited Disease. 2001;2007-2056 Mc Graw-Hill International Book Co, New York, NY. Chapter 88.
2. Gaustadnes M., Rudiger N., Rasmussen K., Ingerslev J. Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T. → C mutation Arterioscler. Thromb. Vasc. Biol. 20:2000;1392-1395.
3. Shih V.E. Laboratory Techniques for the Detection of Hereditary Metabolic Disorders. 1973;CRC Press, Córdoba, USA. 12-13.
4. Araki A., Sako Y. Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection. J. Chromatogr. 422:1987;43-52.
5. John S.W., Weitzner G., Rozen R., Scriver C.R. A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res. 19:1991;408.
6. Perez B., Desviat L.R., Die M., Cornejo V., Chamoles N.A., Nicolini H., Ugarte M. Presence of the Mediterranean PKU mutation IVS10 in Latin America. Hum. Mol. Genet. 2:1993;1289-1290.
7. Orita M., Iwahana H., Kanazawa H., Hayashi K., Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA. 86:1989;2766-2770.
8. Kraus J.P., Oliveriusova J., Sokolova J., Kraus E., Vlcek C., de Franchis R., Maclean K.N., Bao L., Bukovsk G., Patterson D., Paces V., Ansorge W., Kozich V. The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. Genomics. 52:1998;312-324.
9. Maclean K.N., Gaustadnes M., Oliveriusova J., Janosik M., Kraus E., Kozich V., Kery V., Skovby F., Rudiger N., Ingerslev J., Stabler S.P., Allen R.H., Kraus J.P. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. Hum. Mutat. 19:2002;641-655.
10. Urreizti R., Balcells S., Rodes M., Vilarinho L., Baldellou A., Luz Couce M., Munoz C., Campistol J., Pinto X., Antonia Vilaseca M., Grinberg D. Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. Hum. Mutat. 22:2003;103.
11. Kraus J.P., Le K., Swaroop M., Ohura T., Tahara T., Rosenberg L.E., Roper M.D., Kozich V. Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells. Hum. Mol. Genet. 2:1993;1633-1638.
12. Sebastio G., Sperandeo M.P., Panico M., de Franchis R., Kraus J.P., Andria G. The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am. J. Hum. Genet. 56:1995;1324-1333.
13. Sperandeo M.P., Panico M., Pepe A., Candito M., de Franchis R., Kraus J.P., Andria G., Sebastio G. 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. J. Inherit. Metab. Dis. 18:1995;211-214.
14. Gallagher P.M., Ward P., Tan S., Naughten E., Kraus J.P., Sellar G.C., McConnell D.J., Graham I., Whitehead A.S. High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients. Hum. Mutat. 6:1995;177-180.
15. Lievers K.J., Kluijtmans L.A., Heil S.G., Boers G.H., Verhoef P., Den Heijer M., Trijbels F.J., Blom H.J. Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study. Eur. J. Hum. Genet. 11:2003;23-29.
16. Kluijtmans L.A., Boers G.H., Stevens E.M., Renier W.O., Kraus J.P., Trijbels F.J., van den Heuvel L.P., Blom H.J. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J. Clin. Invest. 98:1996;285-289.
17. Pepe G., Vanegas O.C., Rickards O., Giusti B., Comeglio P., Brunelli T., Marcucci R., Prisco D., Gensini G.F., Abbate R. World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker. Hum. Genet. 104:1999;126-129.
18. Frosst P., Blom H.J., Milos R., Goyette P., Sheppard C.A., Matthews R.G., Boers G.J., den Heijer M., Kluijtmans L.A., van den Heuvel L.P., Rozen R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat. Genet. 10:1995;111-113.
19. Kraus J.P., Janosik M., Kozich V., Mandell R., Shih V., Sperandeo M.P., Sebastio G., de Franchis R., Andria G., Kluijtmans L.A., Blom H., Boers G.H., Gordon R.B., Kamoun P., Tsai M.Y., Kruger W.D., Koch H.G., Ohura T., Gaustadnes M. Cystathionine beta-synthase mutations in homocystinuria. Hum. Mutat. 13:1999;362-375.
20. Bird A.P. CpG-rich islands and the function of DNA methylation. Nature. 321:1986;209-213.
21. Antonarakis S.E., Krawczak M., Cooper D.N. The nature and mechanisms of human gene mutation. Scriver C.R., Beaudet A.L., Valle D., Sly W.S. The Metabolic and Molecular Bases of Inherited Disease. 2001;343-378 Mc Graw-Hill International Book Co, New York, NY. Chapter 13.
22. Mainou Cid C., Garcia Giralt N., Vilaseca Busca M.A., Ferrer Codina I., Meco Lopez J.F., Mainou Pinto A., Pinto Sala X., Grinberg Vaisman D., Balcells Comas S. Hyperhomocystinemia and 677C. > T methylenetetrahydrofolate reductase polymorphism as a cardiovascular risk factor in childhood An. Esp. Pediatr. 56:2002;402-408.
23. Blom H.J. Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10 methylenetetrahydrofolate reductase. Eur. J. Pediatr. 159(Suppl. 3):2000;S208-S212.
24. Sperandeo M.P., de Franchis R., Andria G., Sebastio G. A 68-pb insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA. Am. J. Hum. Genet. 59:1996;1391-1393.
25. Zschocke J., Quak E., Knauer A., Fritz B., Aslan M., Hoffmann G.F. Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis. J. Inherit. Metab. Dis. 22:1999;687-692.