干扰素调节因子6基因致病的Van der Woude综合征的家系调查和遗传特点分析
Clinical and genetic features of Chinese kindreds with Van der Woude syndrome caused by interferon regulatory factor 6 mutation
作者：杜新雅,李晓宇,武斌,谢春,田卫东
Author：Xinya Du,Xiaoyu Li,Bin Wu,Chun Xie,Weidong Tian
收稿日期：2018-01-27 年卷（期）页码：2018,36(6):623-623-627
期刊名称：华西口腔医学杂志
Journal Name：West China Journal of Stomatology
关键字：Van der Woude综合征,临床表型,唇腭裂,干扰素调节因子6,遗传特征,
Key words：Van der Woude syndrome,clinical phenotype,cleft lip and/or palate,interferon regulatory factor 6,genetic characteristic,
基金项目：深圳市科创委基层研究项目(JCYJ20170307141759582)
中文摘要
目的 探讨中国人Van der Woude综合征（VWS）的临床表型及遗传学特点。方法 先证者法收集14个VWS家系并进行口腔专科检查、家系调查及基因突变分析,分析不同VWS家系个体或同一家系不同个体的临床表型,绘制家系图谱,明确遗传方式及致病基因,计算表型分布频率和表型基因频率。结果 VWS家系基本符合常染色体显性遗传特征,患者多数表现为典型的VWS,致病基因为干扰素调节因子6（IRF6）。VWS表型分布频率为：唇瘘91.9%,唇腭裂73.0%,牙畸形8.1%。不同家系个体和同一家系的不同个体临床表型存在明显差异。结论 收集的家系均为常染色体显性遗传,表现度变异大。中国人群VWS致病基因为IRF6,为Ⅰ型VWS。
英文摘要
ObjectiveThis study aimed to investigate the clinical phenotype and genetic characteristics of Chinese families with Van der Woude syndrome (VWS).MethodsClinical manifestations between 14 families and within each family were recorded. Possible inheritance modes and pathogenic genes were analyzed. Phenotypic distribution and gene frequencies were calculated.ResultsOf the pedigrees investigated, an autosomal dominant inheritance pattern was suggested. All patients had typical symptoms. The pathogenic gene was interferon regulatory factor 6 (IRF6). Phenotypic distribution frequencies were as follows: lip pits (91.9%), cleft lip and/or palate (73.0%), and hyperdontia (8.1%). There were significant differences in clinical phenotypes among individuals of different families and individuals of the same family.ConclusionVWS in a Chinesepopulation was dominantly inherited with high penetrance and variable expressivity. The pathogenic gene was IRF6. VWS in a Chinese population was genotyped as VWS1.
下一条：无牙颌种植固定修复的咬合分析
【关闭】
