Department of Oral-Maxillofacial Surgery, Prosthodontics and Special Dental Care, University Medical Center Utrecht, Utrecht, the Netherlands.
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Mol Genet Genomic Med. 2019 Jun;7(6):e679. doi: 10.1002/mgg3.679. Epub 2019 Apr 4.
Wnt and Wnt-associated pathways play an important role in the genetic etiology of oligodontia, a severe form of tooth agenesis. Loss-of-function mutations in LRP6 , encoding a transmembrane cell-surface protein that functions as a coreceptor in the canonical Wnt/b-catenin signaling cascade, also contribute to genetic oligodontia.
We describe a three-generation family with hereditary thrombocytopenia and oligodontia. Genome wide array analysis was performed. The array results from the index patient revealed an interstitial loss of 150 kb in 8p23.1 (chr8:6,270,299-6,422,558; hg19) encompassing MCPH1 and ANGPT2 and an interstitial loss of 290 kb in 12p13.2 (chr12:12,005,720-12,295,290; hg19) encompassing ETV6, BCL2L14 and LRP6.
This case report shows a three-generation family with hereditary thrombocytopenia and oligodontia with a heterozygous 290 kb novel contiguous gene deletion in band p13.2 of chromosome 12, encompassing LRP6 and ETV6. In this report we discuss the clinical relevance of the deletion of both genes and illustrate the importance of thorough examination of oligodontia patients. Comprising not only the oral status but also the medical history of the patients and their relatives.
Wnt 和 Wnt 相关途径在遗传性缺牙症（一种严重的牙齿缺失形式）的遗传病因学中起着重要作用。LRP6 编码一种跨膜细胞表面蛋白，作为经典 Wnt/β-连环蛋白信号级联反应的核心受体，其功能丧失突变也导致遗传性缺牙症。
我们描述了一个三代遗传性血小板减少症和缺牙症的家族。进行了全基因组微阵列分析。索引患者的阵列结果显示 8p23.1 （chr8：6,270,299-6,422,558; hg19） 中存在 150kb 的染色体间缺失，包含 MCPH1 和 ANGPT2，以及 12p13.2 （chr12：12,005,720-12,295,290; hg19） 中存在 290kb 的染色体间缺失，包含 ETV6、BCL2L14 和 LRP6。
本病例报告显示一个三代遗传性血小板减少症和缺牙症家族，存在染色体 12p13.2 上的杂合 290kb 新型连续基因缺失，包含 LRP6 和 ETV6。在本报告中，我们讨论了这两个基因缺失的临床相关性，并说明了对缺牙症患者进行彻底检查的重要性。不仅要包括患者及其亲属的口腔状况，还要包括他们的病史。
