全外显子组测序鉴定一家系长岛型掌跖角化症SERPINB7基因突变分析  

Analysis on SERPINB7 gene mutation in a family with Nagashima-type palmoplantar keratosis identified by whole exome sequencing

作　　者：黄闰娣 王笑宇 刘成[2] 李荣华[3] 余佳林 李常兴[4] HUANG Rundi;WANG Xiaoyu;LIU Cheng;LI Ronghua;YU Jialin;LI Changxing(Department of Dermatology,Dalang Hospital of Dongguan,Dongguan 523770,Guangdong,China;Department of Dermatology,Guangdong Armed Police Corps General Hospital Affiliated to Guangzhou Medical University,Guangzhou 510517,Guangdong,China;Department of Dermatology,Quanzhou First Hospital Affiliated to Fujian Medical University,Quanzhou 362000,Fujian,China;Department of Dermatology,Nanfang Hospital of Southern Medical University,Guangzhou 510515,Guangdong,China)

机构地区：[1]广东省东莞市大朗医院皮肤科,广东东莞523770 [2]广州医科大学附属武警广东省总队医院皮肤科,广东广州510517 [3]福建医科大学附属泉州第一医院皮肤科,福建泉州362000 [4]南方医科大学南方医院皮肤科,广东广州510515

出　　处：《右江医学》2021年第4期254-257,共4页Chinese Youjiang Medical Journal

基　　金：广东省自然科学基金(2020A15150875);泉州市科技计划项目(2019N026S);广东省医学科研基金项目(A2020382)。

摘　　要：目的对一例临床诊断遗传性掌跖角化症患者进行全外显子组测序分析致病基因。方法收集一例临床诊断遗传性掌跖角化症的临床资料,采集患者及家系成员样本提取外周血DNA,通过全外显子组测序结果筛选致病变异,进一步用Sanger测序进行家系验证。结果一家系成员3人,患者1人,女,17岁,表现为掌跖角化症17年。患者检测到SERPINB7纯合突变c.796C>T(p.Arg266Ter)位点,该突变导致SERPINB7基因编码的蛋白第266位氨基酸由精氨酸变为终止密码。先证者父亲和母亲均检测到SERPINB7杂合突变c.796C>T(p.Arg266Ter)位点。该例患者诊断为长岛型掌跖角化症(Nagashima-type palmoplantar keratosis,NPPK)。结论NPPK患者符合常染色体隐性遗传模式,SERPINB7 c.796C>T(p.Arg266Ter)基因纯合突变是导致该例NPPK患者的临床表型。Objective To carry out whole exome sequencing on 1 case of hereditary palmoplantar keratosis diagnosed in the clinic,so as to analyze pathogenic genes of it.Methods The clinical data of a case of hereditary palmoplantar keratosis were collected.The samples of the patient and her family members were collected to extract the peripheral blood DNA.Pathogenic variants were screened by the results of whole exome sequencing,and Sanger sequencing was used for further family verification.Results The family(3 members)included a 17-year-old female patient,characterized by palmoplantar keratosis for 17 years.A homozygous mutation of SERPINB7c.796C>T(p.Arg266Ter)was identified in the patient,which caused the protein 266 amino acid encoded by the SERPINB7 gene to change from arginine to termination code.SERPINB7 heterozygous mutation c.796C>T(p.Arg266 Ter)locus was detected in both father and mother of the patient.So the patient was diagnosed with Nagashima-type palmoplantar keratosis(NPPK).Conclusion The NPPK patient is consistent with autosomal recessive inheritance pattern,and SERPINB7 c.796C>T(p.Arg266Ter)homozygous mutation is responsible for the clinical phenotype of this NPPK patient.

关 键 词：长岛型掌跖角化症 丝氨酸蛋白酶抑制剂B7 基因 突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]