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

Nat Genet. 2001 Oct;29(2):141-2. doi: 10.1038/ng740.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cell Adhesion Molecules / genetics*
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Codon, Nonsense*
  • Heterozygote
  • Homozygote
  • Humans
  • Nectins
  • Venezuela

Substances

  • Cell Adhesion Molecules
  • Codon, Nonsense
  • NECTIN1 protein, human
  • Nectins

Associated data

  • OMIM/119530