From Ectodermal Dysplasia to Selective Tooth Agenesis
From Ectodermal Dysplasia to Selective Tooth Agenesis
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DOI：
10.1002/ajmg.a.32801
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发表时间：
2009-09-01
影响因子：
2
通讯作者：
D'Souza, Rena
中科院分区：
文献类型：
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作者：
Mues, Gabriele I.;Griggs, Rachel;D'Souza, Rena
少汗性外胚层发育不良的历史和教训。(HED)可以作为揭开其他外胚层发育不良综合征病因和发病机制的一个例子，他证明了表型相同的综合征(HED)可以由不同基因的突变引起(EDA、EDAR、EDARADD)，同一基因(EDA)的突变可以导致不同的表型(HED和选择性牙齿发育不良)，以及同一信号通路(NEMO)下游更远的基因的突变可能会相当深刻地改变表型(色觉失禁(IP)和免疫缺陷的HED)。但它也表明，勤奋的表型特征和分类对揭示潜在的基因非常有帮助。我们还提出了一种新的EDA基因突变，它导致选择性牙齿发育不全，并证明了在全球发病率最高的外胚层发育不良综合征(HED)中可能遇到的表型变异。(C)2009年Wiley-Liss，Inc.
The history and the lessons learned from hypohidrotic ectodermal dysplasia. (HED) may serve as an example for the unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes (HED) can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene (EDA) can lead to different phenotypes (HED and selective tooth agenesis) and that mutations in genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly (incontinentia pigmenti (IP) and HED with immunodeficiency). But it also demonstrates that diligent phenotype characterization and classification is extremely helpful in uncovering the underlying genotype. We also present a new mutation in the EDA gene which causes selective tooth agenesis and demonstrates the phenotype variation that can be encountered in the ectodermal dysplasia syndrome (HED) with the highest prevalence worldwide. (C) 2009 Wiley-Liss, Inc.