Summary Van der Woude syndrome (VWS) is an autosomal dominant developmental malformation presenting with bilateral lower lip pits related to cleft lip, cleft palate and other malformations. We performed a whole-genome copy number variations (CNVs) scan in an Indian family with members suffering from VWS using 2·6 million combined SNP and CNV markers. We found CNVs affecting IRF6, a known candidate gene for VWS, in all three cases, while none of the non-VWS members showed any CNVs in the IRF6 region. The duplications and deletions of the chromosomal critical region in 1q32-q41 confirm the involvement of CNVs in IRF6 in South Indian VWS patients. Molecular network analysis of these and other cleft lip/palate related module genes suggests that they are associated with cytokine-mediated signalling pathways and response to interferon-gamma mediated signalling pathways. This is a maiden study indicating the involvement of CNVs in IRF6 in causing VWS in the Indian population.

中文翻译：

---

全基因组拷贝数扫描可确定IRF6参与印度家庭的范德伍德综合症。

总结Van der Woude综合征（VWS）是常染色体显性发育畸形，表现为双侧下唇凹，与唇裂，related裂和其他畸形有关。我们使用2·600万个SNP和CNV组合标记在印度家庭中对患有VWS的成员进行了全基因组拷贝数变异（CNV）扫描。我们发现在所有这三种情况下，CNV均会影响VWS的已知候选基因IRF6，而所有非VWS成员均未在IRF6区域显示任何CNV。1q32-q41中染色体关键区域的重复和缺失证实了南印度VWS患者中CNV参与IRF6。这些和其他唇裂/ related裂相关模块基因的分子网络分析表明，它们与细胞因子介导的信号通路和对干扰素-γ介导的信号通路的响应有关。这是一项处女研究，表明CNV参与IRF6导致印度人口中的VWS。