Abstract:
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non-syndromic traits of the causative gene (e.g., non-syndromic hypodontia or missing teeth associated with pathogenic variants of EDA \"ectodysplasin\"). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT \"wingless-type,\" TP63 \"tumor protein p63\") or the components of complex molecular structures (e.g., connexins, keratins, cadherins).
摘要:
一个国际咨询小组在贝塞斯达的国立卫生研究院开会,2017年,马里兰州讨论了一种新的外胚层发育不良(ED)分类系统,该系统将整合临床和分子信息。我们建议如下,ED的工作定义建立在以前的分类系统上,并结合当前的诊断方法:ED是影响两种或多种外胚层衍生物发育和/或稳态的遗传条件。包括头发,牙齿,指甲,和某些腺体。已知与ED相关的基因中的遗传变异仅影响外胚层的一种衍生物(减弱的表型)将被归类为致病基因的非综合征性状(例如,与EDA“外生质异常蛋白”的致病性变异相关的非综合征性牙髓功能减退或牙齿缺失)。分类和编目的信息包括表型特征,曼号在线孟德尔遗传,继承模式,遗传改变,涉及的主要发育途径(例如,EDA,WNT\"无翼型,\“TP63\”肿瘤蛋白p63\”)或复杂分子结构的成分(例如,连接蛋白,角蛋白,钙黏着蛋白)。