Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela

  title={Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela},
  author={Mehmet A. S{\"o}zen and K. Suzuki and M. M. Tolarov{\'a} and T. Bustos and J. Iglesias and R. Spritz},
  journal={Nature Genetics},
  • Mehmet A. Sözen, K. Suzuki, +3 authors R. Spritz
  • Published 2001
  • Biology, Medicine
  • Nature Genetics
  • 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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