title: 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.affiliation: Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, Colorado, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: Sözen
authors.forename: K
authors.initials: K
authors.lastname: Suzuki
authors.forename: M M
authors.initials: MM
authors.lastname: Tolarova
authors.forename: T
authors.initials: T
authors.lastname: Bustos
authors.forename: J E
authors.initials: JE
authors.lastname: Fernández Iglesias
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D015815:Cell Adhesion Molecules / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D018389:Codon, Nonsense; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D000075983:Nectins; D014687:Venezuela
chemical_list: D015815:Cell Adhesion Molecules; D018389:Codon, Nonsense; C000619010:NECTIN1 protein, human; D000075983:Nectins