Genetic Factors and Orofacial Clefting

Seminars in Orthodontics

Volumn 14, Issue 2, 2008, Pages 103-114

  Lidral, Andrew C ^a,b   Moreno, Lina M ^a   Bullard, Steven A ^a  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 43649083220     PISSN: 10738746     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.sodo.2008.02.002     Document Type: Article

References (77)

1. Cohen M.M. Syndromes with cleft lip and cleft palate. Cleft Palate J 15 (1978) 306-328
2. Shprintzen R.J., Siegel V.L., Amato J., et al. Anomalies associated with cleft lip, cleft palate, or both. Am J Med Genet 20 (1985) 585-595
3. Gorlin R.J. Syndromes of the head and neck (1990), Oxford University Press, New York
4. Gabriel S.B., Schaffner S.F., Nguyen H., et al. The structure of haplotype blocks in the human genome. Science 296 (2002) 2225-2229
5. Marazita M.L., and Mooney M.P. Current concepts in the embryology and genetics of cleft lip and cleft palate. Clin Plast Surg 31 (2004) 125-140
6. Vanderas A.P. Incidence of cleft lip, cleft palate, and cleft lip and palate among races: a review. Cleft Palate J 24 (1987) 216-225
7. Fraser F.C. The genetics of cleft lip and palate: yet another look. In: Pratt R.M., and Christiansen R.L. (Eds). Current Trends in Prenatal Craniofacial Development (1980), Elsevier/North Holland, New York 357-366
8. Beaudet A.L. 1998 ASHG presidential address. Making genomic medicine a reality. Am J Hum Genet 64 (1999) 1-13
9. Davies J.L., Kawaguchi Y., Bennett S.T., et al. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 371 (1994) 130-136
10. Hashimoto L., Habita C., Beressi J.P., et al. Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature 371 (1994) 161-164
11. Sawcer S., Jones H.B., Feakes R., et al. A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet 13 (1996) 464-468
12. Haines J.L., Ter-Minassian M., Bazyk A., et al. A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. Nat Genet 13 (1996) 469-471
13. Ebers G.C., Kukay K., Bulman D.E., et al. A full genome search in multiple sclerosis. Nat Genet 13 (1996) 472-476
14. Kuokkanen S., Gschwend M., Rioux J.D., et al. Genomewide scan of multiple sclerosis in Finnish multiplex families. Am J Hum Genet 61 (1997) 1379-1387
15. Murray J.C. Face facts: genes, environment, and clefts. Am J Hum Genet 57 (1995) 227-232
16. Rintala A.E., and Ranta R. Lower lip sinuses: I. Epidemiology, microforms and transverse sulci. Br J Plast Surg 34 (1981) 26-30
17. Murray J.C., Nishimura D.Y., Buetow K.H., et al. Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome 1q. Am J Hum Genet 46 (1990) 486-491
18. Schutte B.C., Bjork B.C., Coppage K.B., et al. A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. Genome Res 10 (2000) 81-94
19. Kondo S., Schutte B.C., Richardson R.J., et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32 (2002) 285-289
20. Zlotogora J. Syndactyly, ectodermal dysplasia, and cleft lip/palate. J Med Genet 31 (1994) 957-959
21. Suzuki K., Bustos T., and Spritz R.A. Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. Am J Hum Genet 63 (1998) 1102-1107
22. Suzuki K., Hu D., Bustos T., et al. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet 25 (2000) 427-430
23. Subramanian R.P., Dunn J.E., and Geraghty R.J. The nectin-1[alpha] transmembrane domain, but not the cytoplasmic tail, influences cell fusion induced by HSV-1 glycoproteins. Virology 339 (2005) 176-191
24. Moore G.E., Ivens A., Chambers J., et al. Linkage of an X-chromosome cleft palate gene. Nature 326 (1987) 91-92
25. Braybrook C., Doudney K., Marcano A.C., et al. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat Genet 29 (2001) 179-183
26. Braybrook C., Lisgo S., Doudney K., et al. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Hum Mol Genet 11 (2002) 2793-2804
27. Bush J.O., Lan Y., Maltby K.M., et al. Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene. Dev Dyn 225 (2002) 322-326
28. Stanier P., Forbes S.A., Arnason A., et al. The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X. Genomics 17 (1993) 549-555
29. Wilkie A.O., and Morriss-Kay G.M. Genetics of craniofacial development and malformation. Nat Rev Genet 2 (2001) 458-468
30. Wyszynski D.F. Cleft Lip and Palate: From Origin to Treatment (2002), Oxford University Press, Oxford
31. Schliekelman P., and Slatkin M. Multiplex relative risk and estimation of the number of loci underlying an inherited disease. Am J Hum Genet 71 (2002) 1369-1385
32. Mitchell L.E., and Christensen K. Analysis of the recurrence patterns for nonsyndromic cleft lip with or without cleft palate in the families of 3,073 Danish probands. Am J Med Genet 61 (1996) 371-376
33. Farrall M., Buetow K.H., and Murray J.C. Resolving an apparent paradox concerning the role of TGFA in CL/P. Am J Hum Genet 52 (1993) 434-436
34. Horikawa Y., Oda N., Cox N.J., et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 26 (2000) 163-175
35. Carinci F., Pezzetti F., Scapoli L., et al. Recent developments in orofacial cleft genetics. J Craniofac Surg 14 (2003) 130-143
36. Zucchero T.M., Cooper M.E., Maher B.S., et al. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351 (2004) 769-780
37. Houdayer C., Bonaiti-Pellie C., Erguy C., et al. Possible relationship between the van der Woude syndrome (VWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P). Am J Med Genet 104 (2001) 86-92
38. Scapoli L., Palmieri A., Martinelli M., et al. Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet 76 (2005) 180-183
39. Srichomthong C., Siriwan P., and Shotelersuk V. Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population. J Med Genet 42 (2005) e46-
40. Satokata I., and Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 6 (1994) 348-356
41. Vastardis H., Karimbux N., Guthua S.W., et al. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet 13 (1996) 417-421
42. Marazita M.L., Field L.L., Tuncbilek G., et al. Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey. Am J Med Genet 126A (2004) 111-122
43. Moreno L.M., Arcos-Burgos M., Marazita M.L., et al. Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio. Am J Med Genet 125A (2004) 135-144
44. Schultz R.E., Cooper M.E., Daack-Hirsch S., et al. Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families. Am J Med Genet 125A (2004) 17-22
45. Vieira A.R., Orioli I.M., Castilla E.E., et al. MSX1 and TGFB3 contribute to clefting in South America. J Dent Res 82 (2003) 289-292
46. Suazo J., Santos J.L., Carreno H., et al. Linkage Disequilibrium between MSX1 and non-syndromic cleft lip/palate in the Chilean population. J Dent Res 83 (2004) 782-785
47. van den Boogaard M.J., Dorland M., Beemer F.A., et al. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. [published erratum appears in Nat Genet 25:125, 2000]. Nat Genet 24 (2000) 342-343
48. Jezewski P.A., Vieira A.R., Nishimura C., et al. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet 40 (2003) 399-407
49. Suzuki Y., Jezewski P.A., Machida J., et al. In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. Genet Med 6 (2004) 117-125
50. Proetzel G., Pawlowski S.A., Wiles M.V., et al. Transforming growth factor-B3 is required for secondary palate fusion. Nat Genet 11 (1995) 409-414
51. Kaartinen V., Voncken J.W., Shuler C., et al. Abnormal lung development and cleft palate in mice lacking TGF-B3 indicates defects of epithelial-mesenchymal interaction. Nat Genet 11 (1995) 415-421
52. Marazita M.L., Murray J.C., Lidral A.C., et al. Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet 75 (2004) 161-173
53. Liu W., Sun X., Braut A., et al. Distinct functions for Bmp signaling in lip and palate fusion in mice. Development 2 (2005) 1453-1461
54. Peters H., Neubuser A., Kratochwil K., et al. Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev 12 (1998) 2735-2747
55. Blanco R., Suazo J., Santos J.L., et al. Association between 10 microsatellite markers and nonsyndromic cleft lip palate in the Chilean population. Cleft Palate Craniofac J 41 (2004) 163-167
56. Fujita H., Nagata M., Ono K., et al. Linkage analysis between BCL3 and nearby genes on 19q13.2 and non-syndromic cleft lip with or without cleft palate in multigenerational Japanese families. Oral Dis 10 (2004) 353-359
57. Yoshiura K.-i., Machida J., Daack-Hirsch S., et al. Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate*1. Genomics 54 (1998) 231-240
58. Sozen M.A., Suzuki K., Tolarova M.M., et al. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet 29 (2001) 141-142
59. Sato N., Katsumata N., Kagami M., et al. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab 89 (2004) 1079-1088
60. Schultz R.E. Identification of genetic loci involved in nonsyndromic cleft lip with or without cleft palate. PhD thesis, in Genetics Program (2005), University of Iowa, Iowa City, IA
61. Marcano A.C.B., Doudney K., Braybrook C., et al. TBX22 mutations are a frequent cause of cleft palate. J Med Genet 41 (2004) 68-74 DOI: 10.1136/jmg.2003.010868
62. Stanier P., and Moore G.E. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet 13 (2004) R73-R81 DOI: 10.1093/hmg/ddh052
63. Prescott N.J., Lees M.M., Winter R.M., et al. Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet 106 (2000) 345-350
64. Wyszynski D.F., Albacha-Hejazi H., Aldirani M., et al. A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families. Am J Med Genet 123A (2003) 140-147
65. Jones K.L., Smith D.W., Ullelaand C.N., et al. Pattern of malformation in offspring of chronic alcoholic mothers. Lancet 9 (1973) 1267-1271
66. Wyszynski D.F., Duffy D.L., and Beaty T.H. Maternal cigarette smoking and oral clefts: a meta-analysis. Cleft Palate Craniofac J 34 (1997) 206-210
67. Prescott N.J., and Malcolm S. Folate and the face: evaluating the evidence for the influence of folate genes on craniofacial development. Cleft Palate Craniofac J 39 (2002) 327-331
68. Murray J. Gene/environment causes of cleft lip and/or palate. Clin Genet 61 (2002) 248-256
69. Vieira A.R., Murray J.C., Trembath D., et al. Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects. Am J Med Genet A 135 (2005) 220-223
70. Jugessur A., Wilcox A.J., Lie R.T., et al. Exploring the effects of methylenetetrahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads. Am J Epidemiol 157 (2003) 1083-1091
71. van Rooij I.A.L.M., Vermeij-Keers C., Kluijtmans L.A.J., et al. Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without cleft palate?. Am J Epidemiol 157 (2003) 583-591
72. Shotelersuk V., Ittiwut C., Siriwan P., et al. Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip. J Med Genet 40 (2003) e64
73. Pezzetti F., Martinelli M., Scapoli L., et al. Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate. Hum Mutat 24 (2004) 104-105
74. van Rooij I.A.L.M., Ocke M.C., Straatman H., et al. Periconceptional folate intake by supplement and food reduces the risk of nonsyndromic cleft lip with or without cleft palate. Prev Med 39 (2004) 689-694
75. Lammer E.J., Shaw G.M., Iovannisci D.M., et al. Maternal smoking, genetic variation of glutathione s-transferases, and risk for orofacial clefts. Epidemiology 16 (2005) 698-701
76. Lammer E.J., Shaw G.M., Iovannisci D.M., et al. Periconceptional multivitamin intake during early pregnancy, genetic variation of acetyl-N-transferase 1 (NAT1), and risk for orofacial clefts. Birth Defects Res A Clin Mol Teratol 70 (2004) 846-852
77. Lammer E.J., Shaw G.M., Iovannisci D.M., et al. Maternal smoking and the risk of orofacial clefts: susceptibility with NAT1 and NAT2 polymorphisms. Epidemiology 15 (2004) 150-156