STUDY OF THE CLPTM1 GENE IN SOUTH AMERICAN NON-SYNDROMIC CLEFT LIP PATIENTS WITH OR WITHOUT PALATE

Year 2008, Volume: 5 Issue: 3, 134 - 139, 01.09.2008

Mehmet A Sözen Marie M Tolarova Richard A Spritz

Abstract

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Keywords

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STUDY OF THE CLPTM1 GENE IN SOUTH AMERICAN NON-SYNDROMIC CLEFT LIP PATIENTS WITH OR WITHOUT PALATE

Abstract

Aim: The CLPTM1 gene is considered as a candidate gene based on the fact that it is localized in the human chromosomal region 19q13 which maps in the candidate region OFC3. This study aims to test the involvement of this candidate gene, CLPTM1, in non-syndromic cleft lip with or without cleft palate (CL/P, MIM 119530) and to analyze particularly a CLPTM1 variant, A88A if there is an allelic association with non-syndromic cleft lip and palate. Methods: A total of 171 non-syndromic cleft lip patients with or without palate and 181 healthy controls from Venezuela and a total of 92 non-syndromic CL/P patients and 76 healthy controls from Argentina were screened for CLPTM1 Exon 3 variation, A88A using Single Stranded Conformation Polymorphism technique. Results: We found no significant difference for the A88A mutation of CLPTM1 gene between nsCL/P patients and controls neither in Venezuela nor in Argentina, although the first cohort from Venezuela showed a significant difference in terms of CLPTM1 88A mutant allele frequency in particular. Conclusion: The CLPTM1 variant, A88A, was not found to be associated with the disease in the two populations studied. These data suggest that CLPTM1 gene do not seem to participate in the development of nsCL/P in the South American populations studied. These results also suggest that larger sample size in the study of the allelic association might be more informative than the smaller ones

Keywords

CLPTM1, human chromosome 19q13 region, cleft lip/palate, mutation, SSCP

References

• Tolarova MM, Cervenka J. Classification and birth prevalence of orofacial clefts. Am J Med Genet 1998;75:126-37
• Vanderas AP. Incidence of cleft lip, cleft palate, and cleft lip and palate among races: a review. Cleft Palate J 1987;24:216-25
• Mitchell LE, Risch N Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: a reanalysis. Am J Hum Genet 1992;51:323-32
• Spritz, RA The genetics and epigenetics of orofacial clefts. Curr Opinion Pediatr 2001;13:556-60
• Murray JC Gene/environment causes of cleft lip and/or palate. Clin Genet 2002;61(4):248-56
• Cobourne MT. The complex genetics of cleft lip and palate Eur J Orthod 2004;26:7-16
• 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(10): 1509-19
• Stein J, Mulliken JB, Stal S, et al. Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. Am J Hum Genet 1995;57(2):257-72
• Martinelli M, Scapoli L, Pezzetti F, et al. Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation. Genomics 1998;51:177-81
• Marazita ML, Field LL, Cooper ME, et al. Nonsyndromic cleft lip with or without cleft palate in China: assessment of candidate regions. Cleft Palate Craniofac J 2002;39: 149-56
• Fujita H, Nagata M, Ono K, Okubo H, Takagi R. 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 2004;10:353-9
• Wyszynski DF, Maestri N, McIntosh I, et al. Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families. Hum Genet 1997;99:22-6
• Blanco R, Suazo J, Santos JL, et al. Association between 10 microsatellite markers and nonsyndromic cleft lip palate in the Chilean population. Cleft Palate Craniofac J 2004;41:163-67
• Carreno H, Suazo J, Paredes M, Sola J, Valenzuela J, Blanco R. Association between cleft lip/palate phenotype and non syndrome microsatellite markers located in 6p, 17q and 19q. Rev Med Chil 2002;130:35-44
• Beaty TH, Hetmanski JB, Zeiger JS, et al. Testing candidate genes for non-syndromic oral clefts using a case-parent trio design. Genet Epidemiol 2002;22:1-11
• Gaspar DA, Matioli SR, Pavanello RC, et al. Evidence that BCL3 plays a role in the etiology of nonsyndromic oral clefts in Brazilian families Genet Epidemiol 2002;23: 364-74
• Warrington A, Vieira AR, Christensen K, et al. Genetic evidence for the role of loci at 19q13 in cleft lip and palate. J Med Genet 2006;43: e26
• Pezzetti F, Palmieri A, Martinelli M, et al. Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2. Eur J Hum Genet 2007;15:992-4
• Eberle F, Dubreuil P, Mattei MG, Devilard E, Lopez M. The human PRR2 gene, related to the human poliovirus receptor gene (PVR), is the true homolog of the murine MPH gene. Gene 1995;159:267-72
• Takahashi K, Nakanishi H, Miyahara M, et al. Nectin/PRR: an immunoglobulin-like cell adhesion molecule recruited to cadherin- based adherens junctions through interaction with Afadin, a PDZ domain-containing protein. J Cell Biol 1999;145:539-49
• 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 2000;25:427-30
• 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;29:141-2
• Yoshiura K, 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. Genomics 1998;54:231-40
• Turhani D, Item CB, Watzinger E, et al. Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate. J Craniomaxillofac Surg 2005;33:301-6
• Ichikawa E, Watanabe A, Nakano Y, et al. PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. J Hum Genet 2006;51(1):38-46
• Rossi MR, Hawthorn L, Platt J, Burkhardt T, Cowell JK, Ionov Y. Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis. Cancer Genet Cytogenet. 2005;161(2):97-103
• Endo M, Hakozaki H, Kokubun T, et al. Generation of 919 expressed sequence tags from immature flower buds and gene expression analysis using expressed sequence tags in the model plant Lotus japonicus. Genes Genet Syst. 2002;77(4): 277-82
• Polski JM, Kimzey S, Percival RW, Grosso LE. Rapid and effective processing of blood specimens for diagnostic PCR using filter paper and Chelex-100. Mol Pathol 1998;51: 215-17
• Lee ST, Park SK, Lee KH, Holmes SA, Spritz RA. A non-radioactive method for simultaneous detection of single-strand conformation polymorphisms (SSCPs) and heteroduplexes. Mol Cells 1995;5:668-72