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Brief Communication
Nature Genetics  29, 141 - 142 (2001)
Published online: 17 September 2001; | doi:10.1038/ng740

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

Mehmet A. Sözen1, 5, Koji Suzuki1, 5, Marie M. Tolarova2, Tania Bustos3, Jesús E. Fernández Iglesias4 & Richard A. Spritz1

1  Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, Colorado, USA.

2  Department of Orthodontics, University of the Pacific, San Francisco, California, USA.

3  Centro Nacional de Genética Humana y Experimental, Universidad Central de Venezuela, Caracas, Venezuela.

4  Centro de Diagnóstico Odontologica, Porlamar, Isla de Margarita, Venezuela.

5  These authors contributed equally to this work.

Correspondence should be addressed to Richard A. Spritz richard.spritz@uchsc.edu
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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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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