中国范德伍德综合征患者中的新型IRF6突变

Novel IRF6 mutations in Chinese patients with Van der Woude syndrome.

作者信息

Du X, Tang W, Tian W, Li S, Li X, Liu L, Zheng X, Chen X, Lin Y, Tang Y

机构信息

Department of Oral & Maxillofacial Surgery, West China College of Stomatology, Sichuan University, Chengdu 610041, P.R. China.

出版信息

J Dent Res. 2006 Oct;85(10):937-40. doi: 10.1177/154405910608501013.

DOI:10.1177/154405910608501013

PMID:16998136

Abstract

Van der Woude syndrome (VWS) (OMIM 119300) is a dominantly inherited, developmental disorder that is characterized by pits and/or sinuses of the lower lip and a cleft lip and/or cleft palate. Mutations in the interferon regulatory factor 6 gene (IRF6) have been recently identified in patients with VWS, with more than 60 mutations reported. However, the VWS phenotype, IRF6 mutation genotypes, and their interrelationships in Chinese VWS patients have not been studied. Here, we report 11 Chinese families with variable clinical phenotypes of VWS and identified mutations in all patients. Of the 11 mutations, 8 appeared to be novel: CC5.6GT, T342A, 566delA, C748T, C756A, C989A, C1209G, and 1316delT. Seven mutations caused a change or loss of the IRF6 domain. The marked phenotypic variation may be caused by the action of certain modifier genes on IRF6 function.

摘要

范德伍德综合征（VWS）（OMIM 119300）是一种常染色体显性遗传的发育障碍，其特征为下唇凹陷和/或窦道以及唇裂和/或腭裂。近期研究发现，范德伍德综合征患者的干扰素调节因子6基因（IRF6）发生了突变，已报道的突变超过60种。然而，中国范德伍德综合征患者的临床表型、IRF6基因突变基因型及其相互关系尚未得到研究。在此，我们报告了11个具有不同临床表型的中国范德伍德综合征家系，并确定了所有患者的突变情况。在这11种突变中，有8种似乎是新发现的：CC5.6GT、T342A、566delA、C748T、C756A、C989A、C1209G和1316delT。7种突变导致了IRF6结构域的改变或缺失。明显的表型变异可能是由某些修饰基因对IRF6功能的作用引起的。