New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate

European Journal of Oral Sciences

Volumn 119, Issue 3, 2011, Pages 193-197

  Martinelli, Marcella ^a   Masiero, Elena ^a   Carinci, Francesco ^b   Morselli, Paolo G ^a   Pezzetti, Furio ^a   Scapoli, Luca ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF FERRARA   (Italy)

Author keywords

Betaine homocysteine methyltransferase (BHMT); Betaine homocysteine methyltransferase 2 (BHMT2); Cleft lip with or without cleft palate; Cystathionine beta synthase (CBS); Methionine pathway

Indexed keywords

BETAINE HOMOCYSTEINE METHYLTRANSFERASE; CYSTATHIONINE BETA SYNTHASE;

ADULT; ARTICLE; CHI SQUARE DISTRIBUTION; CHILD; CLEFT LIP; CLEFT PALATE; ENZYMOLOGY; GENETICS; GENOME IMPRINTING; HUMAN; METABOLISM; MOTHER; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BETAINE-HOMOCYSTEINE S-METHYLTRANSFERASE; CHI-SQUARE DISTRIBUTION; CHILD; CLEFT LIP; CLEFT PALATE; CYSTATHIONINE BETA-SYNTHASE; GENOMIC IMPRINTING; HUMANS; MOTHERS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79955956345     PISSN: 09098836     EISSN: 16000722     Source Type: Journal    
DOI: 10.1111/j.1600-0722.2011.00824.x     Document Type: Article

References (25)

1. Taparia S, Gelineau-van Waes J, Rosenquist TH, Finnell RH. Importance of folate-homocysteine homeostasis during early embryonic development. Clin Chem Lab Med 2007; 45: 1717-1727.
2. Morrison HI, Ellison LF, Schaubel D, Wigle DT. Relationship of dietary folate and vitamin B6 with coronary heart disease in women. JAMA 1998; 280: 417-418; author reply 418-419.
3. Razin A, Kantor B. DNA methylation in epigenetic control of gene expression. Prog Mol Subcell Biol 2005; 38: 151-167.
4. Martinelli M, Scapoli L, Pezzetti F, Carinci F, Carinci P, Stabellini G, Bisceglia L, Gombos F, Tognon M. C677T variant form at the MTHFR gene and CL/P: a risk factor for mothers? Am J Med Genet 2001; 98: 357-360.
5. Pezzetti F, Martinelli M, Scapoli L, Carinci F, Palmieri A, Marchesini J, Carinci P, Caramelli E, Rullo R, Gombos F, Tognon M. Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate. Hum Mutat 2004; 24: 104-105.
6. Scapoli L, Marchesini J, Martinelli M, Pezzetti F, Carinci F, Palmieri A, Rullo R, Gombos F, Tognon M, Carinci P. Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without cleft palate cases. Am J Med Genet A 2005; 132: 302-304.
7. Martinelli M, Scapoli L, Palmieri A, Pezzetti F, Baciliero U, Padula E, Carinci P, Morselli PG, Carinci F. Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate. Hum Mutat 2006; 27: 294.
8. Heil SG, Lievers KJ, Boers GH, Verhoef P, Den Heijer M, Trijbels FJ, Blom HJ. Betaine-homocysteine methyltransferase (BHMT): genomic sequencing and relevance to hyperhomocysteinemia and vascular disease in humans. Mol Genet Metab 2000; 71: 511-519.
9. Carinci F, Pezzetti F, Scapoli L, Padula E, Baciliero U, Curioni C, Tognon M. Nonsyndromic cleft lip and palate: evidence of linkage to a microsatellite marker on 6p23. Am J Hum Genet 1995; 56: 337-339.
10. Zhu H, Curry S, Wen S, Wicker NJ, Shaw GM, Lammer EJ, Yang W, Jafarov T, Finnell RH. Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? Am J Med Genet A 2005; 135: 274-277.
11. Rubini M, Brusati R, Garattini G, Magnani C, Liviero F, Bianchi F, Tarantino E, Massei A, Pollastri S, Carturan S, Amadori A, Bertagnin E, Cavallaro A, Fabiano A, Franchella A, Calzolari E. Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate. Am J Med Genet A 2005; 136A: 368-372.
12. Sebastio G, Sperandeo MP, Panico M, De Franchis R, Kraus JP, 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 1995; 56: 1324-1333.
13. Wittke-Thompson JK, Pluzhnikov A, Cox NJ. Rational inferences about departures from Hardy-Weinberg equilibrium. Am J Hum Genet 2005; 76: 967-986.
14. Dudbridge F. Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 2003; 25: 115-121.
15. Sham PC, Curtis D. An extended transmission/disequilibrium test (TDT) for multi-allele marker loci. Ann Hum Genet 1995; 59: 323-336.
16. Weinberg CR, Wilcox AJ, Lie RT. A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting. Am J Hum Genet 1998; 62: 969-978.
17. Vermunt JK. LEM: a general program for the analysis of categorical data. Tilburg, the Netherlands: Tilburg University, 1997.
18. Morin I, Platt R, Weisberg I, Sabbaghian N, Wu Q, Garrow TA, Rozen R. Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida. Am J Med Genet A 2003; 119A: 172-176.
19. Weisberg IS, Park E, Ballman KV, Berger P, Nunn M, Suh DS, Breksa AP 3rd, Garrow TA, Rozen R. Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease. Atherosclerosis 2003; 167: 205-214.
20. Mostowska A, Hozyasz KK, Wojcicki P, Dziegelewska M, Jagodzinski PP. Associations of folate and choline metabolism gene polymorphisms with orofacial clefts. J Med Genet 2010; 47: 809-815.
21. Mostowska A, Hozyasz KK, Biedziak B, Misiak J, Jagodzinski PP. Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts. Eur J Oral Sci 2010; 118: 325-332.
22. Vyletal P, Sokolova J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. Hum Mutat 2007; 28: 255-264.
23. Giusti B, Comeglio P, Attanasio M, Gori AM, Brunelli T, Prisco D, Pepe G, Gensini GF, Abbate R. Different distribution of the double mutant "T833C/68bp insertion" in cystathionine beta-synthase gene in Northern and Southern Italian populations. Thromb Haemost 1997; 78: 1293.
24. Guzman MA, Navarro MA, Carnicer R, Sarria AJ, Acin S, Arnal C, Muniesa P, Surra JC, Arbones-Mainar JM, Maeda N, Osada J. Cystathionine beta-synthase is essential for female reproductive function. Hum Mol Genet 2006; 15: 3168-3176.
25. Blanton SH, Henry RR, Yuan Q, Mulliken JB, Stal S, Finnell RH, Hecht JT. Folate pathway and nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol 2011; 91: 50-60.