Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela
MA Sözen, K Suzuki, MM Tolarova, T Bustos… - Nature …, 2001 - nature.com
MA Sözen, K Suzuki, MM Tolarova, T Bustos, JE Fernández Iglesias, RA Spritz
Nature genetics, 2001•nature.comNon-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.
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.
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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