A revisit to the natural history of homocystinuria due to cystathionine β-synthase deficiency

Molecular Genetics and Metabolism

Volumn 99, Issue 1, 2010, Pages 1-3

  Skovby, Flemming ^a   Gaustadnes, Mette ^b   Mudd, S Harvey ^c  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

Ascertainment bias; Cystathionine synthase; Deficiency; Homocystinuria; I278T; Natural history

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

GENE MUTATION; HETEROZYGOSITY; HOMOCYSTINURIA; HOMOZYGOSITY; HUMAN; NEWBORN SCREENING; PRIORITY JOURNAL; REVIEW;

CYSTATHIONINE BETA-SYNTHASE; DENMARK; GENE FREQUENCY; GENOTYPE; HOMOCYSTINURIA; HUMANS; INCIDENCE; INFANT, NEWBORN; MUTATION, MISSENSE; NEONATAL SCREENING;

EID: 71649116022     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.09.009     Document Type: Review

References (20)

1. Carson N.A.J., and Neill D.W. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch. Dis. Child. 37 (1962) 505-513
2. Mudd S.H., Finkelstein J.D., Irreverre F., and Laster L. Homocystinuria: an enzymatic defect. Science 143 (1964) 1443-1445
3. Mudd S.H., Levy H.L., and Skovby F. Disorders of transsulfuration. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease (1995), McGraw-Hill Inc., New York 1279-1327
4. Mudd S.H., Levy H.L., and Skovby F. Disorders of transsulfuration. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Childs B., Kinzler K.W., and Vogelstein B. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill Inc., New York 2007-2056
5. Mudd S.H., Skovby F., Levy H.L., Pettigrew K.D., Wilcken B., Pyeritz R.E., Andria G., Boers G.H.J., Bromberg I.L., Cerone R., Fowler B., Grobe H., Schmidt H., and Schweitzer L. The natural history of homocystinuria due to cystathionine β-synthase deficiency. Am. J. Hum. Genet. 37 (1985) 1-31
6. Gaustadnes M., Ingerslev J., and Rütiger N. Prevalence of congenital homocystinuria in Denmark. N. Engl. J. Med. 340 (1999) 1513
7. Refsum H., Fredriksen A., Meyer K., Ueland P.M., and Kase B.F. Birth prevalence of homocystinuria. J. Pediatr. 144 (2004) 830-832
8. Sokolová J., Janosiková B., Terwilliger J.D., Freiberger T., Kraus J.P., and Kozich V. Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. Hum. Mutat. 18 (2001) 548-549
9. Linnebank M., Homberger A., Junker R., Nowak-Goettl U., Harms E., and Koch H.G. High prevalence of the 1278T mutation of the human cystathionine β-synthase detected by a novel screening application. Thromb. Haemost. 85 (2001) 986-988
10. Griffioen P.H., de Jonge R., van Zelst B.D., Brouns R.M., and Lindemans J. Detection and allele-frequencies of the 833T>C, 844ins68 and a novel mutation in the cystathionine β-synthase gene. Clin. Chim. Acta 354 (2005) 191-194
11. Gaustadnes M., Rüdiger N., Rasmussen K., and Ingerslev J. Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants. Thromb. Haemost. 83 (2000) 554-558
12. Yap S., Boers G.H.J., Wilcken B., Wilcken D.E.L., Brenton D.P., Lee P.J., Walter J.H., Howard P.M., and Naughten E.R. Vascular outcome in patients with homocystinuria due to cystathionine β-synthase deficiency treated chronically. A multicenter observational study. Arterioscler. Thromb. Vasc. Biol. 21 (2001) 2080-2085
13. Wang L., Chen X., Tang B., Hua X., Klein-Szanto A., and Kruger W.D. Expression of mutant human cystathionine β-synthase rescues neonatal lethality but not homocystinuria in a mouse model. Hum. Mol. Genet. 14 (2005) 2201-2208
14. Kim C.E., Gallagher P.M., Guttormsen A.B., Refsum H., Ueland P.M., Ose L., Folling I., Whitehead A.S., Tsai M.Y., and Kruger W.D. Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine β-synthase mutation in homocystinuria. Hum. Mol. Genet. 6 (1997) 2213-2221
15. Janosik M., Sokolová J., Janosiková B., Krijt J., Klatovska V., and Kozich V. Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene. J. Pediatr. 154 (2009) 431-437
16. Gallagher P.M., Ward P., Tan S., Naughten E., Kraus J.P., Sellar G.C., McConnell D.J., Graham I., and Whitehead A.S. High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients. Hum. Mutat. 6 (1995) 177-180
17. El-Said M.F., Badii R., Bessisso M.S., Shahbek N., El-Ali M.G., El-Marikhie M., El-Zyoid M., Salem M.S.Z., Bener A., Hoffmann G.F., and Zschocke J. A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population. Hum. Mutat. 27 (2006) 719
18. Zschocke J., Kebbewar M., Gan-Scheuer H., Fischer C., Fang-Hoffman J., Wilrich J., Abdoh G., Ben-Omran T., Shahbek N., Lindner M., Al Rifai H., Al Khai A.L., and Hoffman G.F. Molecular neonatal screening for homocystinuria in the Qatari population. Hum. Mutat. 30 (2009) 1021-1022
19. Urreizti R., Asteggiano C., Bermudez M., Cordóba A., Szlago M., Grosso C., Dodelson de Kremer R., Vilarinho L., D'Almeida V., Marinez-Pardo M., Peña-Quintana L., Dalmau J., Bernal J., Briceño I., Couce M.L., Rodés M., Vilaseca M.A., Balcells S., and Grinberg D. The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. J. Hum. Genet. 51 (2006) 305-313
20. M. Magner, L. Krupova, T. Honzik, J. Zeman, V. Kozich, in: Seventh International Conference on Homocysteine Metabolism, Prague, Czech Republic, June 2009, pp. 21-25, abstract.