Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.
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.
Sözen
M A
MA
Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, Colorado, USA.
Suzuki
K
K
Tolarova
M M
MM
Bustos
T
T
Fernández Iglesias
J E
JE
Spritz
R A
RA
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
D015815:Cell Adhesion Molecules; D018389:Codon, Nonsense; C000619010:NECTIN1 protein, human; D000075983:Nectins