RESUMEN

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.

Asunto(s)

Moléculas de Adhesión Celular/genética , Labio Leporino/genética , Fisura del Paladar/genética , Codón sin Sentido , Heterocigoto , Homocigoto , Humanos , Nectinas , Venezuela