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

被引：147
|
作者：
Sözen, MA
Suzuki, K
Tolarova, MM
Bustos, T
Iglesias, JEF
Spritz, RA [1 ]
机构：
[1] Univ Colorado, Hlth Sci Ctr, Human Med Genet Program, Denver, CO 80262 USA
[2] Univ Pacific, Dept Orthodont, San Francisco, CA USA
[3] Cent Univ Venezuela, Ctr Nacl Genet Humana & Expt, Caracas, Venezuela
[4] Ctr Diagnost Odontol, Porlamar, Isla Margarita, Venezuela
来源：
NATURE GENETICS | 2001年 / 29卷 / 02期
关键词：
D O I：
10.1038/ng740
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：141 / 142
页数：2
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