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

页码：141 / 142

页数：2

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