遗传性对称性色素异常症一家系ADAR基因新突变  

Identification of a new mutation in the ADAR gene in a family of dyschromia symmetry hereditary

作　　者：何艳艳 王雯竹 刘振[3] 张敏 马骁 王宝玺 曾荣 徐浩翔 HE Yan-yan;WANG Wen-zhu;LIU Zhen(Institute of Dermatology,Chinese Academy of Medical Sciences and Peking Union Medical College,Nanjing 210042,China)

机构地区：[1]中国医学科学院&北京协和医学院皮肤病医院·研究所,南京210042 [2]江苏省皮肤性病学分子生物学重点实验室 [3]南京医科大学附属南京医院&南京市第一医院神经外科

出　　处：《实用皮肤病学杂志》2022年第6期373-376,共4页Journal of Practical Dermatology

基　　金：国家自然科学基金(82073471,81703148,81472905);中国医学科学院医学与健康科技创新工程(2016-I2M-1-003);南京医科大学科技发展基金(NMUB2020154);江苏南京江宁区科技惠民计划(20212021NJNQKJHMJHXM0133)

摘　　要：报告1家系确诊的遗传性对称性色素异常症(dyschromia symmetry hereditary,DSH)患者ADAR基因新突变。先证者为青年女性患者,双侧手足背色素加深伴色素减退29年,临床表现为双手足伸侧皮肤对称分布粟粒、黄豆大小黑褐色斑疹,间杂以色素减退及色素脱失斑。基因测序结果示:ADAR基因无义突变(c.2092G>U)。诊断:遗传性对称性色素异常症。A new mutation in ADAR gene was reported in a family-diagnosed patient with dyschromia symmetry hereditary(DSH).A young female patient complained of hyperpigmentation and hypopigmentation on the back of both hands and feet.The clinical manifestations were miliary and soybean-sized dark-brown macules with symmetrical distribution of the skin on the extensor sides of both hands and feet,interspersed with hypopigmented or depigmented spots.Gene sequencing results showed ADAR gene nonsense mutation(c.2092G>U).Diagnosis:hereditary symmetric dyschromia.

关 键 词：色素异常症 对称性 遗传性 ADAR基因 基因突变 

分 类 号：R758.54[医药卫生—皮肤病学与性病学]