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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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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