Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate

Human Molecular Genetics

Volumn 17, Issue 14, 2008, Pages 2212-2218

  Chiquet, Brett T ^a,b   Blanton, Susan H ^c   Burt, Amber ^c   Ma, Deqiong ^c   Stal, Samuel ^d   Mulliken, John B ^e   Hecht, Jacqueline T ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF TEXAS DENTAL BRANCH AT HOUSTON   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; WNT PROTEIN; WNT11 PROTEIN; WNT3 PROTEIN; WNT3A PROTEIN; WNT5A PROTEIN; WNT7A PROTEIN; WNT8A PROTEIN;

ARTICLE; BIRTH DEFECT; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; DISEASE PREDISPOSITION; ENVIRONMENTAL FACTOR; ETHNICITY; FACE DEVELOPMENT; GENE FUNCTION; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEREDITY; HUMAN; LIP; MAJOR CLINICAL STUDY; MULTIGENE FAMILY; MULTIPLEX POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REGULATORY MECHANISM; SINGLE NUCLEOTIDE POLYMORPHISM;

CLEFT LIP; CLEFT PALATE; ETHNIC GROUPS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE (GENETICS); MALE; MULTIGENE FAMILY; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; VARIATION (GENETICS); WNT PROTEINS;

MUS;

EID: 46349108966     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn121     Document Type: Article

References (50)

1. Gorlin, R.J., Cohen, J.M.M. and Levin, L.S. (1990) Syndromes of the Head and Neck, 3rd edn. Oxford University Press, New York.
2. Hashmi, S.S., Waller, D.K., Langlois, P., Canfield, M. and Hecht, J.T. (2005) Prevalence of nonsyndromic oral clefts in Texas: 1995-1999. Am. J. Med. Genet. A., 134, 368-372.
3. Gorlin, R.J., Cohen, M.M. and Hennekam, R.C.M. (2001) Syndromes of the Head and Neck, 4th edn. Oxford University Press, New York.
4. Lidral, A.C. and Moreno, L.M. (2005) Progress toward discerning the genetics of cleft lip. Curr. Opin. Pediatr., 17, 731-739.
5. Chiquet, B.T., Lidral, A.C., Stal, S., Mulliken, J.B., Moreno, L.M., Arco-Burgos, M., Valencia-Ramirez, C., Blanton, S.H. and Hecht, J.T. (2007) CRISPLD2. A novel NSCLP candidate gene. Hum, Mol. Genet., 16, 2241-2248.
6. Ghassibe, M., Bayet, B., Revencu, N., Verellen-Dumoulin, C., Gillerot, Y., Vanwijck, R. and Vikkula, M. (2005) Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population. Eur. J. Hum. Genet., 13, 1239-1242.
7. Scapoli, L., Palmieri, A., Martinelli, M., Pezzetti, F., Carinci, P., Tognon, M. and Carinci, F. (2005) 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, 180-183.
8. Srichomthong, C., Siriwan, P. and Shotelersuk, V. (2005) Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population. J. Med. Genet., 42 e46.
9. Suzuki, Y., Jezewski, P.A., Machida, J., Watanabe, Y., Shi, M., Cooper, M.E., Viet le, T., Nguyen, T.D., Hai, H., Natsume, N. et al. (2004) In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. Genet. Med., 6, 117-125.
10. Zucchero, T.M., Cooper, M.E., Maher, B.S., Daack-Hirsch, S., Nepomuceno, B., Ribeiro, L., Caprau, D., Christensen, K., Suzuki, Y., Machida, J. et al. (2004) Interferon regulatory factor 6 (IRF6) gene variants and the risk, of isolated c1cft lip or palate. N. Engl. J. Med., 351, 769-780.
11. Blanton, S.H., Cortez, A., Stal, S., Mulliken, J.B., Finnell, R.H. and Hecht, J.T. (2005) Variation in IRF6 contributes to nonsyndromic cleft lip and palate. Am. J. Med. Genet. A, 137, 259-262.
12. Vieira, A.R. (2006) Association between the transforming growth factor alpha gene and nonsyndromic oral clefts: A HuGE review. Am. J. Epidemiol., 163, 790-810.
13. Jezewski, P.A., Vieira, A.R., Nishimura, C., Ludwig, B., Johnson, M., O'Brien, S.E., Daack-Hirsch, S., Schultz, R.E., Weber, A., Nepomucena, B. et al. (2003) Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J. Med. Genet., 40, 399-407.
14. Riley, B.M., Mansilla, M.A., Ma, J., Daack-Hirsch, S., Maher, B.S., Raffensperger, L.M., Russo, E.T., Vieira, A.R., Dode, C., Mohammadi, M. et al. (2007) Impaired FGF signaling contributes to cleft lip and palate. Proc. Natl Acad. Sci. USA, 104, 4512-4517.
15. Brugmann, S.A., Goodnough, L.H., Gregorieff, A., Leucht, P., ten Berge, D., Fuerer, C., Clevers, H., Nusse, R. and Helms, J.A. (2007) Wnt signaling mediates regional specification in the vertebrate face. Development, 134, 3283-3295.
16. Cadigan, K.M. and Nusse, R, (1997) Wnt signaling a common theme in animal development. Genes Dev., 11, 3286-3305.
17. De Calisto, J., Araya, C., Marchant, L., Riaz, C.F. and Mayor, R. (2005) Essential role of non-canonical Wnt signalling in neural crest migration. Development, 132, 2587-2597.
18. Girotti, M, and Zingg, H.H. (2003) Gene expression profiling of rat uterus at different stages of parturition. Endocrinology, 144 2254-2265.
19. Kemp, C., Willems, E., Abdo, S., Lambiv, L. and Leyns, L. (2005) Expression of all Wnt genes and their secreted antagonists during mouse blastocyst and postimplantation development. Dev. Dyn., 233, 1064-1075.
20. Lewis, J.L., Bonner, J., Modrell, M., Ragland, J.W., Moon, R-T., Dorsky, R.I. and Raible, D.W. (2004) Reiterated Wnt signaling during zebrafish neural crest development. Development, 131, 1299-1308.
21. Yamaguchi, T.P., Bradley, A., McMahon, A.P. and Jones, S. (1999) A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo. Development, 126, 1211-1223.
22. Yamaguchi, T.P., Takada, S., Yoshikawa, Y., Wu, N. and McMahon, A.P. (1999) T (Brachyury) is a direct target of Wnt3a during paraxial mesoderm specification. Genes Dev., 13, 3185-3190.
23. Juriloff, D.M., Harris, M.J. and Dewell, S.L. (2004) A digenic cause of cleft lip in A-strain mice and definition of candidate genes for the two loci. Birth Defects Res. A Clin. Mol. Teratol., 70, 509-518.
24. Juriloff, D.M., Harris, M.J., Dewell, S.L., Brown, C1, Mager, D.L., Gagnier, L. and Mah, D.G. (2005) Investigations of the genomic region that contains the clf1 mutation, a causal gene in multifactorial cleft lip and palate idmice. Birth Defects Res. A Clin. Mol. Teratol., 73, 103-113.
25. Juriloff, D.M., Harris, M.J., McMahon, A.P., Carroll, T.J. and Lidral, A.C. (2006) Wnt9b is the mutated gene involved in multifactorial nonsyndromic cleft lip with or without cleft palate in A/WySn mice, as confirmed by a genetic complementation test. Birth Defects Res. A Clin. Mol. Teratol., 76, 574-579.
26. Nanci, A. (2003) Ten Cate's Oral Histology - Development, Structure, and Function, 6th edn. Mosby, Los Angelos.
27. Chai, Y. and Maxson, R.E., Jr (2006) Recent advances in craniofacial morphogenesis. Dev. Dyn., 235, 2353-2375.
28. Brewer, S., Feng, W., Huang, J., Sullivan, S. and Williams, T. (2004) Wnt1-Cre-mediated deletion of AP-2alpha causes multiple neural crest-related defects. Dev. Biol., 267, 135-152.
29. Dixon, J., Jones, N.C., Sandell, L.L., Jayasinghe, S.M., Crane, J., Rey, J.P., Dixon,M.J. and Trainor, P.A. (2006) Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc. Natl Acad. Sci. USA, 103, 13403-13408.
30. Ito, Y., Yeo, J.Y., Chytil, A., Han, J., Bringas, P., Jr, Nakajima, A., Shuler, C.F., Moses, H.L. and Chai, Y. (2003) Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects. Development, 130, 5269-5280.
31. Ciruna, B. and Rossant, J. (2001) FGF signaling regulates mesoderm cell fate specification and morphogenetic movement at the primitive streak. Dev. Cell, 1, 37-49.
32. Jiang, R., Bush, J.O. and Lidral, A.C. (2006) Development of the upper lip: Morphogenetic and molecular mechanisms. Dev. Dyn., 235, spcl.
33. Liu, W., Sun, X., Braut, A., Mishina, Y., Behringer, R.R., Mina, M. and Martin, J.F. (2005) Distinct functions for Bmp signaling in lip and palate fusion in mice. Development, 132, 1453-1461.
34. Miyazaki, Y., Oshima, K., Fogo, A., Hogan, B.L. and Ichikawa, I. (2000) Bone morphogenetic protein 4 regulates the budding site and elongation of the mouse ureter. J. Clin. Invest., 105, 863-873.
35. Kimchi-Sarfaty, C., Oh, J.M., Kim, I.W., Sauna, Z.E., Calcagno, A.M., Ambudkar, S.V. and Gottesman, M.M. (2007) A 'silent' polymorphism in the MDR1 gene changes substrate specificity. Science, 315, 525-528.
36. Blanton, S.H., Bertin, T., Serna, M.E., Stal, S., Mulliken, J.B. and Hecht, J.T. (2004) Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate. Am. J. Med. Genet. A 125, 23-27.
37. Li, M., Atmaca-Sonmez, P., Othman, M., Branham, K.E., Khanna, R., Wade, M.S., Li, Y., Liang, L., Zareparsi, S., Swaroop, A. et al. (2006) CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat. Genet. 38, 1049-1054.
38. Maller, J., George, S., Purcell, S., Fagerness, J., Altshuler, D., Daly, M.J. and Seddon, J.M. (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat. Genet., 38, 1055-1059.
39. McWhinney, S.R., Boru, G., Binkley, P.K., Peczkowska, M., Januszewicz, A.A., Neumann, H.P. and Eng, C. (2003) Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset. J. Clin. Endocrinol. Metab., 88, 4911-4916.
40. Niemann, S., Zhao, C., Pascu, F., Stahl, U., Aulepp, U., Niswander, L., Weber, J.L. and Muller, U. (2004) Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am. J. Hum. Genet., 74, 558-563.
41. Nusse, R. (2005) Wnt signaling in disease and in development. Cell Res., 15, 28-32.
42. Pfeiffer, R.A., Stoss, H., Voight, H.J. and Wundisch, G.F. (1998) Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: A possibly new lethal syndrome. Am. J. Med. Genet., 29, 901-908.
43. Blanton, S.H., Bertin, T., Patel, S., Stal, S., Mulliken, J.B. and Hecht, J.T. (2004) Nonsyndromic cleft lip and palate: Four chromosomal regions of interest. Am. J. Med. Genet. A, 125, 28-37.
44. Stein, J., Mulliken, J.B., Stal, S., Gasser, D.L., Malcolm, S., Winter, R., Blanton, S.H., Amos, C., Seemanova, E. and Hecht, J.T. (1995) Nonsyndromic cleft lip with or without cleft palate: Evidence of linkage to BCL3 in 17 multigenerational families. Am. J. Hum. Genet. 57, 257-272.
45. Abecasis, G.R. and Cookson, W.O. (2000) GOLD-graphical overview of linkage disequilibrium. Bioinformatics, 16, 182-183.
46. Abecasis, G.R., Cherny, S.S., Cookson, W.O. and Cardon, L.R. (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees [see comment]. Nat. Genet., 30, 97-101.
47. Martin, E.R., Bass, M.P., Gilbert, J.R., Pericak-Vance, M.A. and Hauser, E.R. (2003) Genotype-based association test for general pedigrees: The genotype-PDT. Genet. Epidemiol., 25, 203-213.
48. Martin, E.R., Monks, S.A., Warren, L.L. and Kaplan, N.L. (2000) A test for linkage and association in general pedigrees: The pedigree disequilibrium test. Am. J. Hum. Genet., 67, 146-154.
49. Chung, R.H., Hauser, E.R. and Martin, E.R. (2006) The APL test: extension to general nuclear families and haplotypes and examination of its robustness. Hum. Hered., 61, 189-199.
50. Hancock, D.B., Martin, E.R., Li, Y.J. and Scott, W.K. (2007) Methods for interaction analyses using family-based case-control data: Conditional logistic regression versus generalized estimating equations. Genet. Epidemiol., 8, 883-893.