Department of Surgical Medical Sciences and Integrated Diagnostics, University of Genoa, Genoa, Italy.
Plastic Surgeon, Department of Clinical Sciences and Community Health, University of Milan, IRCCS Foundation Cà Granda Policlinico , Milan Italy.
Eur J Paediatr Dent. 2018 Mar;19(1):70-73. doi: 10.23804/ejpd.2018.19.01.13.
Van der Woude syndrome (VWS), an autosomal dominant condition associated with lower lip pits and/or cleft palate, is caused by mutations in the interferon regulatory factor 6 gene (lRF6 gene). The genetic alterations identified to date that contribute to expression of the syndrome are chiefly mutations located on chromosome 1 (the largest of our chromosomes), mutations at p36 that codifies the gene GRHL (grainy-head transcriptor factor) and mutations involving IRF6 (interferon regulatory factor). With frequency ranging from 1:35,000 to 1:100,000, depending on ethnicity, gender, and socio-economic status, the syndrome accounts for about 2% of orofacial clefts. The clinical and histomorphological aspects of VWS are studied, and a case of heterozygous female twins of whom only one was affected with VWS is reported.
This very rare case (no similar case has been reported to date) contributes further evidence on modifying factors in the expression of this condition.
Van der Woude 综合征（VWS）是一种常染色体显性遗传疾病，与下唇窝和/或腭裂有关，由干扰素调节因子 6 基因（IRF6 基因）突变引起。迄今为止，确定导致该综合征表达的遗传改变主要是位于 1 号染色体（我们染色体中最大的染色体）上的突变、编码基因 GRHL（颗粒头转录因子）的 p36 突变和涉及 IRF6（干扰素调节因子）的突变。根据种族、性别和社会经济地位的不同，其频率为 1:35000 至 1:100000，该综合征占口面裂的约 2%。本文研究了 VWS 的临床和组织形态学特征，并报告了一例杂合女性双胞胎的病例，其中只有一个受 VWS 影响。
这一非常罕见的病例（迄今为止没有类似病例报告）进一步证明了该疾病表达的修饰因子。
