Maxillofacial Orthognathics, Division of Maxillofacial/Neck Reconstruction, Department of Maxillofacial Reconstruction and Function, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan.
Orthod Craniofac Res. 2010 May;13(2):114-7. doi: 10.1111/j.1601-6343.2010.01484.x.
Hypohidrotic ectodermal dysplasia is a genetic disorder characterized by diminished or a lack of sweating, congenital missing teeth, and sparse or absent hair. Three genes, EDA, EDAR, and EDARADD, all related to tumor necrosis factor signaling, have been reported as responsible genes for this disorder. Among them, the largest numbers of mutations have been identified in EDA, and only two mutations identified in EDARADD.
DNA analysis of EDA, EDAR, and EDARADD was performed on a Mongolian patient by polymerase chain reaction-direct sequencing.
The 5-year-old Mongolian individual had no erupted deciduous or permanent teeth. A panoramic radiograph showed only one tooth in the right mandible. His hair and eyebrows were sparse, but he did not have a short stature. He showed diminished sweating. The nails of his fingers and toes were normal. Based on these conditions, he was diagnosed with hypohidrotic ectodermal dysplasia. There was no gene mutation of EDA or EDAR. A novel heterozygous variant (P121S; c.361C>T) was identified in the death domain of EDARADD (NM_080738). No other member of his family was affected, and this variant was not identified in his parents or maternal grandparents.
This study reports an individual affected with hypohidrotic ectodermal dysplasia with a novel heterozygous P121S variant in the death domain of EDARADD.
少汗型外胚层发育不全是一种遗传性疾病，其特征为排汗减少或缺失、先天性缺牙以及毛发稀疏或缺失。三个与肿瘤坏死因子信号相关的基因 EDA、EDAR 和 EDARADD 已被报道为该病的致病基因。其中，EDA 中已鉴定出最多数量的突变，而 EDARADD 中仅鉴定出两个突变。
通过聚合酶链反应-直接测序法对一名蒙古患者的 EDA、EDAR 和 EDARADD 进行 DNA 分析。
这名 5 岁的蒙古个体没有萌出的乳牙或恒牙。全景片显示右侧下颌仅一颗牙齿。他的头发和眉毛稀疏，但没有身材矮小。他的排汗减少。他的手指和脚趾的指甲正常。根据这些情况，他被诊断为少汗型外胚层发育不全。EDA 或 EDAR 没有基因突变。在 EDARADD（NM_080738）的死亡域中发现了一个新的杂合变异体（P121S；c.361C>T）。他的其他家庭成员没有受到影响，他的父母或外祖父母也没有发现这种变异体。
本研究报告了一例少汗型外胚层发育不全患者，其 EDARADD 死亡域存在新的杂合 P121S 变异体。
