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

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.

• Authors: M A Sözen, K Suzuki, M M Tolarova, T Bustos, J E Fernández Iglesias, R A Spritz
• Journal: Nature genetics (Nat Genet) Vol. 29 Issue 2 Pg. 141-2 (Oct 2001) ISSN: 1061-4036 [Print] United States
• PMID: 11559849 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

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

Topics

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