Paranaíba LMP, de Aquino SN, Bufalino A, Martelli-Júnior H, Graner E, Brito LA, Passos-Bueno MRS, Coletta RD, Swerts MSO. Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population. Med Oral Patol Oral Cir Bucal. 2013 May 1;18 (3):e414-20.

 

 

doi:10.4317/medoral.18357

http://dx.doi.org/doi:10.4317/medoral.18357

 

 

 

1. Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet. 2011;12:167-78.
http://dx.doi.org/10.1038/nrg2933
PMid:21331089 PMCid:3086810

 

2. Rahimov F, Jugessur A, Murray JC. Genetics of nonsyndromic orofacial clefts.Cleft Palate Craniofac J. 2012;49:73-91.
http://dx.doi.org/10.1597/10-178
PMid:21545302 PMCid:3437188

 

3. Clements SE, Techanukul T, Coman D, Mellerio JE, McGrath JA. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. Br J Dermatol. 2010;162:201-7.
http://dx.doi.org/10.1111/j.1365-2133.2009.09496.x
PMid:19903181

 

4. Cox TC, Allen LR, Cox LL, Hopwood B, Goodwin B, Haan E, et al. New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet. 2000;9:2553-62.
http://dx.doi.org/10.1093/hmg/9.17.2553
PMid:11030761

 

5. Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JÁ, et al. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet. 2000;25:427-30.
http://dx.doi.org/10.1038/78119
PMid:10932188

 

6. Yamashiro T, Aberg T, Levanon D, Groner Y, Thesleff I. Expression of Runx1, -2 and -3 during tooth, palate and craniofacial bone development. Mech Dev. 2002;119:S107-10.
http://dx.doi.org/10.1016/S0925-4773(03)00101-1

 

7. Funato N, Nakamura M, Richardson JA, Srivastava D, Yanagisawa H.Tbx1 regulates oral epithelial adhesion and palatal development. Hum Mol Genet. 2012; 21:2524-37.
http://dx.doi.org/10.1093/hmg/dds071
PMid:22371266

 

8. Yu W, Ruest LB, Svoboda KK. Regulation of epithelial-mesenchymal transition in palatal fusion. Exp Biol Med (Maywood). 2009;234:483-91.
http://dx.doi.org/10.3181/0812-MR-365
PMid:19234053

 

9. Nakatomi M, Wang XP, Key D, Lund JJ, Turbe-Doan A, Kist R, et al. Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis. Dev Biol. 2010;340:438-49.
http://dx.doi.org/10.1016/j.ydbio.2010.01.031
PMid:20123092

 

10. Marigo V, Nigro A, Pecci A, Montanaro D, Di Stazio M, Balduini CL, et al. Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains. Genomics. 2004;83:1125-33.
http://dx.doi.org/10.1016/j.ygeno.2003.12.012
PMid:15177565

 

11. Casey LM, Lan Y, Cho ES, Maltby KM, Gridley T, Jiang R. Jag2-Notch1 signaling regulates oral epithelial differentiation and palate development. Dev Dyn. 2006; 235:1830-44.
http://dx.doi.org/10.1002/dvdy.20821
PMid:16607638

 

12. Avila JR, Jezewski PA, Vieira AR, Oriolli IM, Castilla EE, Christensen K, et al. PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. Am J Med Genet A. 2006;140:2562-70.
http://dx.doi.org/10.1002/ajmg.a.31367
PMid:17089422 PMCid:1885468

 

13. Neiswanger K, Deleyiannis FW, Avila JR, Cooper ME, Brandon CA, Vieira AR, et al. Candidate genes for oral-facial clefts in Guatemalan families. Ann Plast Surg. 2006;56:518-21.
http://dx.doi.org/10.1097/01.sap.0000210261.65455.9d
PMid:16641627

 

14. Sözen MA, Hecht JT, Spritz RA. Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate. Genet Test Mol Biomarkers. 2009;13:617-21.
http://dx.doi.org/10.1089/gtmb.2009.0052
PMid:19715471 PMCid:2953240

 

15. Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Felix TM, Rahimov F, et al. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet. 2005;1:651-9.
http://dx.doi.org/10.1371/journal.pgen.0010064
PMid:16327884 PMCid:1298935

 

16. Brito LA, Paranaiba LM, Bassi CF, Masotti C, Malcher C, Schlesinger D, et al. Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil. Birth Defects Res A Clin Mol Teratol. 2012;94:464-8.
http://dx.doi.org/10.1002/bdra.23011
PMid:22511506

 

17. Aidar M, Line SR. A simple and cost-effective protocol for DNA isolation from buccal epithelial cells. Braz Dent J. 2007;18:148-52.
http://dx.doi.org/10.1590/S0103-64402007000200012
PMid:17982556

 

18. McGuffin LJ, Bryson K, Jones DT. The PSIPRED protein structure prediction server. Bioinformatics. 2000;16:404-5.
http://dx.doi.org/10.1093/bioinformatics/16.4.404
PMid:10869041

 

19. Lewis CM. Genetic association studies: design, analysis and interpretation. Brief Bioinform. 2002;3:146-53.
http://dx.doi.org/10.1093/bib/3.2.146
PMid:12139434

 

20. Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, et al. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med. 2004;351:769-80.
http://dx.doi.org/10.1056/NEJMoa032909
PMid:15317890

 

21. Gaspar DA, Pavanello RC, Zatz M, Passos-Bueno MR, Andre M, Steman S, et al. Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: results from a casecontrol study in Brazil. Am J Med Genet. 1999;87:197-9.
http://dx.doi.org/10.1002/(SICI)1096-8628(19991119)87:2<197::AID-AJMG15>3.0.CO;2-M

 

22. Parra FC, Amado RC, Lambertucci JR, Rocha J, Antunes CM, Pena SD. Color and genomic ancestry in Brazilians. Proc Natl Acad Sci USA. 2003;100:177-82.
http://dx.doi.org/10.1073/pnas.0126614100
PMid:12509516 PMCid:140919

 

23. Han XM, Lou Y, Zhu XY, Hu XF, Pang WY, Sun ZJ, et al. Single nucleotide polymorphism and haplotype in TBX1 gene of patients with conotruncal defects: analysis of 130 cases. Zhonghua Yi Xue Za Zhi. 2006;86:1553-7.
PMid:16854283

 

24. Chieffo C, Garvey N, Gong W, Roe B, Zhang G, Silver L, et al. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics. 1997;43:267-77.
http://dx.doi.org/10.1006/geno.1997.4829
PMid:9268629

 

25. Goudy S, Law A, Sanchez G, Baldwin HS, Brown C. Tbx1 is necessary for palatal elongation and elevation. Mech Dev. 2010;127:292-300.
http://dx.doi.org/10.1016/j.mod.2010.03.001
PMid:20214979 PMCid:2871954

 

26. Sözen MA, Suzuki K, Tolarova MM, Bustos T, Fernandez Iglesias JE, Spritz RA. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet. 2001;29:141-2.
http://dx.doi.org/10.1038/ng740
PMid:11559849

 

27. Tseng YT, Hsiao HH, Hsiao HP, Tsai WC, Chiu HH. A study of PVRL1 mutations for non-syndromic cleft lip and/or palate among Taiwanese patients. Int J Oral Maxillofac Surg. 2006;35:453-5.
http://dx.doi.org/10.1016/j.ijom.2006.01.007
PMid:16497481

 

28. Tongkobpetch S, Suphapeetiporn K, Siriwan P, Shotelersuk V. Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate. Int J Oral Maxillofac Surg. 2008;37:550-3.
http://dx.doi.org/10.1016/j.ijom.2008.01.024
PMid:18356023

 

29. Xu J, Krebs LT, Gridley T. Generation of mice with a conditional null allele of the Jagged2 gene. Genesis. 2010;48:390-3.
http://dx.doi.org/10.1002/dvg.20626
PMid:20533406 PMCid:3114645

 

30. Scapoli L, Martinelli M, Arlotti M, Palmieri A, Masiero E, Pezzetti F, et al. Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: a family-based association study. Eur J Oral Sci. 2008;116: 507-11.
http://dx.doi.org/10.1111/j.1600-0722.2008.00574.x
PMid:19049519