EDA新发突变导致少汗性外胚层发育不良一家系报告  

A Novel Frameshift Mutation in the EDA Gene in A Chinese Family Affected by X-Linked Hypohidrotic Ectodermal Dysplasia

作　　者：袁雨婷 李莉[2] 郭书萍[2] 贺红霞[2] 刘宏业[2] 崔红宙[2] YUAN Yuting;LI Li;GUO Shuping;HE Hongxia;LIU Hongye;CUI Hongzhou(The First Clinical Medical College of Shanxi Medical University,Taiyuan 030001,China;Department of Dermatology,the First Hospital of Shanxi Medical University,Taiyuan 030001,China)

机构地区：[1]山西医科大学第一临床医学院,山西太原030001 [2]山西医科大学第一医院皮肤科,山西太原030001

出　　处：《中国皮肤性病学杂志》2022年第9期1068-1071,共4页The Chinese Journal of Dermatovenereology

基　　金：山西省科学基金应用基础青年面上项目(201901D211489)。

摘　　要：患者男,4岁,自出生以来反复发热,从未排汗,曾口服中药、维生素治疗,效差。体检:仅有锥形上中切牙,均表面发黑;头发稀疏,皮肤干燥脱屑,智力正常。多基因面板测序结果显示:患者EDA基因8号外显子存在一个新的移码突变c.1077dupG(p.K359fs)。Sanger测序结果证实该突变为半合子突变。根据PyMOL(三维分子模型软件)分析,突变的EDA蛋白比野生型蛋白少了6个β折叠。诊断:少汗性外胚层发育不良。目前本病无有效且获得批准的治疗手段。A 4-year-old boy has been suffering from recurrent fever since birth and has not perspired.The patient received traditional Chinese medicine and vitamin treatment;neither was effective.Physical examination showed only two peg-shaped incisors,all with black surface,hair thinning,and dry skin,but no intellectual disability.The result of multigene panel sequencing showed a novel frameshift mutation in exon 8 of EDA(NM_001399:c.1077 dupG:p.K359 f).Results of Sanger sequencing confirmed the mutation of the index case,showing a hemizygous state.According to PyMOL analysis(three-dimensional molecular modeling software),the mutated EDA protein had six fewerβ-sheets than the wild-type protein.Diagnosis of X-linked hypohidrotic ectodermal dysplasia was made.No effective and approved therapies are available for HED.

关 键 词：少汗性外胚层发育不良 X连锁 EDA基因 Sanger测序 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]