Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: A family-based association study

European Journal of Oral Sciences

Volumn 116, Issue 6, 2008, Pages 507-511

  Scapoli, Luca ^a   Martinelli, Marcella ^a   Arlotti, Marzia ^a   Palmieri, Annalisa ^a   Masiero, Elena ^a   Pezzetti, Furio ^a   Carinci, Francesco ^b  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF FERRARA   (Italy)

Author keywords

Cleft lip with or without cleft palate; JAG2; Linkage disequilibrium; MID1; TP63

Indexed keywords

JAG2 PROTEIN, HUMAN; MEMBRANE PROTEIN; MICROTUBULE PROTEIN; MID1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL PEPTIDE; TP63 PROTEIN, HUMAN; TRANSACTIVATOR PROTEIN; TRANSCRIPTION FACTOR; TUMOR SUPPRESSOR PROTEIN;

ARTICLE; CLEFT LIP; CLEFT PALATE; ECTODERMAL DYSPLASIA; GENE LINKAGE DISEQUILIBRIUM; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; HUMAN; ITALY; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME; X CHROMOSOMAL INHERITANCE; X CHROMOSOME;

CHROMOSOMES, HUMAN, X; CLEFT LIP; CLEFT PALATE; ECTODERMAL DYSPLASIA; GENES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; ITALY; LINKAGE (GENETICS); LINKAGE DISEQUILIBRIUM; MEMBRANE PROTEINS; MICROTUBULE PROTEINS; NUCLEAR PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEINS;

EID: 56749097071     PISSN: 09098836     EISSN: 16000722     Source Type: Journal    
DOI: 10.1111/j.1600-0722.2008.00574.x     Document Type: Article

References (29)

1. Schliekelman P, Slatkin M. Multiplex relative risk and estimation of the number of loci underlying an inherited disease. Am J Hum Genet 2002 71 : 1369 1385.
2. Carinci F, Scapoli L, Palmieri A, Zollino I, Pezzetti F. Human genetic factors in nonsyndromic cleft lip and palate: an update. Int J Pediatr Otorhinolaryngol 2007 71 : 1509 1519.
3. Vieira AR. Unraveling human cleft lip and palate research. J Dent Res 2008 87 : 119 125.
4. Carinci F, Pezzetti F, Scapoli L, Martinelli M, Avantaggiato A, Carinci P, Padula E, Baciliero U, Gombos F, Laino G, Rullo R, Cenzi R, Carls F, Tognon M. Recent developments in orofacial cleft genetics. J Craniofac Surg 2003 14 : 130 143.
5. Lie RT, Wilcox AJ, Taylor J, Gjessing HK, Saugstad OD, Aabyholm F, Vindenes H. Maternal smoking and oral clefts: the role of detoxification pathway genes. Epidemiology 2008 19 : 606 615.
6. Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spritz RA. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet 2000 25 : 427 430.
7. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 2002 32 : 285 289.
8. Sozen 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 : 141 142.
9. Avila JR, Jezewski PA, Vieira AR, Orioli IM, Castilla EE, Christensen K, Daack-Hirsch S, Romitti PA, Murray JC. PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. Am J Med Genet A 2006 140 : 2562 2570.
10. Scapoli L, Palmieri A, Martinelli M, Vaccari C, Marchesini J, Pezzetti F, Baciliero U, Padula E, Carinci P, Carinci F. Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. Ann Hum Genet 2006 70 : 410 413.
11. Scapoli L, Palmieri A, Pezzetti F, Carinci F, Marchesini J, Martinelli M, Delaiti G, Tognon M, Carinci P, Gombos F. Investigation of the W185X nonsense mutation of PVRL1 gene in Italian nonsyndromic cleft lip and palate patients. Am J Med Genet A 2004 127 : 211.
12. Jugessur A, Rahimov F, Lie RT, Wilcox AJ, Gjessing HK, Nilsen RM, Nguyen TT, Murray JC. Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway. Genet Epidemiol 2008 32 : 413 424.
13. Scapoli L, Palmieri A, Martinelli M, Pezzetti F, Carinci P, Tognon M, Carinci F. 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 2005 76 : 180 183.
14. Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu YE, Ray A, Goldstein TH, Schultz RE, Shi M, Johnson MK, Kondo S, Schutte BC, Marazita ML, Murray JC. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 2004 351 : 769 780.
15. van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. Xp63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 2001 69 : 481 492.
16. Sasaki Y, Ishida S, Morimoto I, Yamashita T, Kojima T, Kihara C, Tanaka T, Imai K, Nakamura Y, Tokino T. The p53 family member genes are involved in the Notch signal pathway. J Biol Chem 2002 277 : 719 724.
17. Koster MI, Roop DR. The role of p63 in development and differentiation of the epidermis. J Dermatol Sci 2004 34 : 3 9.
18. Radoja N, Guerrini L, Lo Iacono N, Merlo GR, Costanzo A, Weinberg WC, La Mantia G, Calabro V, Morasso MI. Homeobox gene Dlx3 is regulated by p63 during ectoderm development: relevance in the pathogenesis of ectodermal dysplasias. Development 2007 134 : 13 18.
19. Laurikkala J, Mikkola ML, James M, Tummers M, Mills AA, Thesleff I. p63 regulates multiple signalling pathways required for ectodermal organogenesis and differentiation. Development 2006 133 : 1553 1563.
20. Barrow LL, van Bokhoven H, Daack-Hirsch S, Andersen T, van Beersum SE, Gorlin R, Murray JC. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. J Med Genet 2002 39 : 559 566.
21. Jiang R, Lan Y, Chapman HD, Shawber C, Norton CR, Serreze DV, Weinmaster G, Gridley T. Defects in limb, craniofacial, and thymic development in Jagged2 mutant mice. Genes Dev 1998 12 : 1046 1057.
22. 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 1844.
23. Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Felix TM, Rahimov F, Harrington J, Schultz RR, Watanabe Y, Johnson M, Fang J, O'Brien SE, Orioli IM, Castilla EE, Fitzpatrick DR, Jiang R, Marazita ML, Murray JC. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet 2005 1 : e64.
24. Neiswanger K, Deleyiannis FW, Avila JR, Cooper ME, Brandon CA, Vieira AR, Noorchashm N, Weinberg SM, Bardi KM, Murray JC, Marazita ML. Candidate genes for oral-facial clefts in Guatemalan families. Ann Plast Surg 2006 56 : 518 521 discussion 521.
25. Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet 1997 17 : 285 291.
26. 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.
27. Dudbridge F. Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 2003 25 : 115 121.
28. Sham PC, Curtis D. An extended transmission/disequilibrium test (TDT) for multi-allele marker loci. Ann Hum Genet 1995 59 (Pt 3 323 336.
29. Leoyklang P, Siriwan P, Shotelersuk V. A mutation of the p63 gene in non-syndromic cleft lip. J Med Genet 2006 43 : e28.