少汗性外胚层发育不良
外胚层发育不良
单倍率不足
外胚层
Wnt信号通路
少牙症
生物
间充质
少毛症
遗传学
超长
表型
癌症研究
信号转导
基因
医学
胚胎干细胞
牙科
胚胎
作者
Jonathan Lévy,Yline Capri,Myriam Rachid,Céline Dupont,Joris Robert Vermeesch,Koen Devriendt,Alain Verloes,Anne‐Claude Tabet,Isabelle Bailleul‐Forestier
摘要
Abstract Ectodermal dysplasias are a family of genodermatoses commonly associated with variants in the ectodysplasin/NF‐κB or the Wnt/β‐catenin pathways. Both pathways are involved in signal transduction from ectoderm to mesenchyme during the development of ectoderm‐derived structures. Wnt/β‐catenin pathway requires the lymphoid enhancer‐binding factor 1 (LEF1), a nuclear mediator, to activate target gene expression. In mice, targeted inactivation of the LEF1 gene results in a complete block of development of multiple ectodermal appendages. We report two unrelated patients with 4q25 de novo deletion encompassing LEF1 , associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. Taurodontism and a particular alveolar bone defect were also observed in both patients. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human. We provide further evidence for LEF1 haploinsufficiency role in ectodermal dysplasia and delineate its clinical phenotype.
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