PVRL1基因的突变与委内瑞拉北部散发性、非综合征性唇腭裂相关。

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

作者信息

Sözen M A, Suzuki K, Tolarova M M, Bustos T, Fernández Iglesias J E, Spritz R A

机构信息

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

出版信息

Nat Genet. 2001 Oct;29(2):141-2. doi: 10.1038/ng740.

DOI:10.1038/ng740

PMID:11559849

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.

摘要

非综合征性唇裂伴或不伴腭裂（CL/P，MIM 119530）是最常见的主要出生缺陷之一。PVRL1基因的无义突变W185X的纯合性会导致玛格丽塔岛上出现一种常染色体隐性CL/P综合征，即CLPED1（参考文献1）。在此我们证明，在委内瑞拉北部，这种突变的杂合性与散发性非综合征性CL/P之间存在高度显著的关联。