Abstract
Non-syndromic cleft lip with or without cleft palate (CL/P, MIM 119530) is among the most common of major birth defects. Homozygosity for a nonsense mutation of PVRL1, W185X, results in an autosomal recessive CL/P syndrome on Margarita Island, CLPED1 (ref. 1). Here we demonstrate highly significant association between heterozygosity for this mutation and sporadic, non-syndromic CL/P in northern Venezuela.
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References
Suzuki, K. et al. Nature Genet. 25, 427–430 (2000).
Tolarova M.M. & Cervenka, J. Am. J. Med. Genet. 75,126–137 (1998).
Schutte, B.C. & Murray, J.C. Hum. Molec. Genet . 8, 1853–1859 (1999).
Mitchell, L.E. & Risch, N. Am. J. Hum. Genet. 51, 323–332 (1992).
Mitchell, L.E. Epidemiol. Rev. 19, 61–68 (1997).
Spritz, R.A. Current Opinion in Pediatrics 13, in press (2001).
Bustos, T. et al. Am. J. Med. Genet. 41, 398–404 (1991).
Suzuki, K., Bustos, T. & Spritz, R.A. Am. J. Hum. Genet. 63,1102–1107 (1998).
Melnick, M., Bixler, D., Fogh-Anderson, P and Conneally, P.M. Am. J. Med. Genet. 6, 83–97 (1980).
Tolarova, M. Scand. J. Plast. Reconstr. Surg. 21, 19–25 (1987).
Young, D.L., Schneider, R.A., Hu, D. & Helms, J.A. Crit. Rev. Oral Biol. Med. 11, 304–317 (2000).
Juriloff, J.M., Harris, M.J., & Brown, C.J. Mamm. Genome 12, 426–435 (2001).
Braybrook, C. et al. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nature Genet. 29, 179–183 (2001).
Acknowledgements
We thank C.A. Miller for technical assistance. This work was supported in part by grants from the March of Dimes Birth Defects Foundation (FY99-609), the National Foundation for Ectodermal Dysplasia, and the National Institutes of Health (DE13571) to R.A.S., and support from Rotaplast International, Inc. to M.M.T.
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Sözen, M., Suzuki, K., Tolarova, M. et al. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet 29, 141–142 (2001). https://doi.org/10.1038/ng740
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DOI: https://doi.org/10.1038/ng740
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