一个ADAR基因变异导致遗传性对称性色素异常症家系的分析  

Analysis of a Chinese pedigree affected with dyschromatosis symmetrica hereditaria due to a novel variant of ADAR gene

作　　者：杨科 侯巧芳 张玉薇 娄桂予 祁娜 康冰 张冰 廖世秀 Yang Ke;Hou Qiaofang;Zhang Yuwei;Lou Guiyu;Qi Na;Kang Bing;Zhang Bing;Liao Shixiu(Henan Provincial Institute of Medical Genetics,People’s Hospital of Zhengzhou University,Henan Provincial People’s Hospital,Zhengzhou,Henan 450003,China)

机构地区：[1]河南省人民医院郑州大学人民医院河南省医学遗传研究所,郑州450003

出　　处：《中华医学遗传学杂志》2022年第1期64-67,共4页Chinese Journal of Medical Genetics

基　　金：河南省医学科技攻关计划(LHGJ20190594)。

摘　　要：目的对1个遗传性对称性色素异常症家系的临床特征和ADAR基因变异进行分析,明确其可能的遗传病因。方法对先证者的ADAR基因外显子及外显子与内含子的交界区域进行PCR扩增并测序,针对检出的可疑致病变异在该家系中进行验证。结果测序结果显示先证者ADAR基因(NM_001111)存在c.1352delA(p.Asn451Metfs*13)缺失移码杂合变异;经验证,其症状相似的母亲、妹妹的ADAR基因均存在c.1352delA缺失移码杂合变异,家系中未受累的父亲及舅舅该位点为野生型。同时对100名正常人DNA进行ADAR基因c.1352delA变异筛查均未发现相同变异。根据美国医学遗传学与基因组学学会遗传变异分类标准与指南,ADAR基因c.1352delA(p.Asn451Metfs*13)变异判定为致病性变异(PVS1+PM2+PP1+PP3)。结论ADAR基因c.1352delA(p.Asn451Metfs*13)缺失移码变异可能是该家系罹患遗传性对称性色素异常症的遗传病因。Objective To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria(DSH).Methods PCR and Sanger sequencing were carried out for the proband,and suspected variant was validated by Sanger sequencing in the pedigree.Results The proband was found to harbor a novel variant of c.1352delA(p.N451Mfs*13)of the ADAR(NM_001111)gene.The same variant was found in her affected mother and sister,but not in her unaffected father,uncle,and 100 healthy individual.Conclusion The novel variant of the ADAR gene probably underlay the pathogenesis of DSH in this pedigree.

关 键 词：遗传性对称性色素异常症 ADAR基因 基因变异 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]