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.
M A Sözen  1 ,  K Suzuki ,  M M Tolarova ,  T Bustos ,  J E Fernández Iglesias ,  R A Spritz
Affiliations
  • 1. Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, Colorado, USA.
PMID: 11559849 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.