2. Academic Validation
  3. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela

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

Affiliation

  • 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.

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