Objective: This study aimed to investigate the clinical phenotype and genetic characteristics of Chinese families with Van der Woude syndrome (VWS).
Methods: Clinical 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.
Results: Of 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.
Conclusions: VWS in a Chinese population was dominantly inherited with high penetrance and variable expressivity. The pathogenic gene was IRF6. VWS in a Chinese population was genotyped as VWS1.
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。.
Keywords: Van der Woude syndrome; cleft lip and/or palate; clinical phenotype; genetic characteristic; interferon regulatory factor 6.