Leslie E J, Koboldt D C, Kang C J, Ma L, Hecht J T, Wehby G L, Christensen K, Czeizel A E, Deleyiannis F W-B, Fulton R S, Wilson R K, Beaty T H, Schutte B C, Murray J C, Marazita M L
Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
The Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Clin Genet. 2016 Jul;90(1):28-34. doi: 10.1111/cge.12675. Epub 2015 Oct 1.
Van der Woude syndrome (VWS) is an autosomal dominant malformation syndrome characterized by orofacial clefting (OFC) and lower lip pits. The clinical presentation of VWS is variable and can present as an isolated OFC, making it difficult to distinguish VWS cases from individuals with non-syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in several modestly sized cohorts with mixed results. In this study, we screened 1521 trios with presumed non-syndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and non-syndromic OFCs. We combined our results with other similar studies (totaling 2472 families) and conclude that causal IRF6 mutations are found in 0.24-0.44% of apparently non-syndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families with mixed types of OFCs and/or autosomal dominant transmission.
范德伍德综合征(VWS)是一种常染色体显性畸形综合征,其特征为口面部裂隙(OFC)和下唇凹陷。VWS的临床表现具有变异性,可表现为孤立性OFC,这使得VWS病例难以与非综合征性OFC患者区分开来。约70%的VWS致病突变发生在IRF6基因,该基因也与非综合征性OFC有关。在几个规模适中的队列中,对明显非综合征性病例进行了IRF6突变筛查,结果不一。在本研究中,我们对1521个假定为非综合征性OFC的三联体进行了筛查,以确定致病IRF6突变的频率。我们鉴定出7个可能的致病IRF6突变,不过事后审查发现,基于存在下唇凹陷,有2个VWS家族被误诊。我们没有发现罕见的IRF6多态性与非综合征性OFC之间存在关联的证据。我们将我们的结果与其他类似研究(共计2472个家族)相结合,得出结论:在明显非综合征性OFC家族中,致病IRF6突变的发生率为0.24 - 0.44%。我们建议,对于某些家族模式,如具有混合型OFC和/或常染色体显性遗传的家族,应考虑对IRF6进行临床突变筛查。