黄闰娣 王笑宇 刘成 李荣华 余佳林 李常兴

【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基因編码的蛋白第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。

【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

中图分类号：R758.5+3   文献标志码：A   DOI：10.3969/j.issn.1003-1383.2021.04.004

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

[HJ2][HJ]

HUANG Rundi1， WANG Xiaoyu2， LIU Cheng2， LI Ronghua3， YU Jialin1， LI Changxing4

（1. Department of Dermatology， Dalang Hospital of Dongguan， Dongguan 523770， Guangdong， China;

2. Department of Dermatology， Guangdong Armed Police Corps General Hospital Affiliated to Guangzhou

Medical University， Guangzhou 510517， Guangdong， China; 3.Department of Dermatology， Quanzhou First

Hospital Affiliated to Fujian Medical University， Quanzhou 362000， Fujian， China; 4. Department of

Dermatology， Nanfang Hospital of Southern Medical University， Guangzhou 510515， Guangdong， China）

[HJ2][HJ]

【Abstract】 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.

【Key words】 NPPK; SERPINB7; gene; mutation

长岛型掌跖角化症（Nagashima-type palmoplantar keratosis，NPPK）首先在日本报告，是一种罕见的先天性掌跖角化症，遗传模式符合常染色体隐性遗传，临床表现为掌跖等部位出现红斑、丘疹、斑块、角化，常伴真菌感染或手足多汗症[1～2]。课题组前期的研究显示NPPK的致病基因为丝氨酸蛋白酶抑制剂B7（SERPINB7） [2～4]。本課题组前期收集一例临床诊断为先天性掌跖角化症患者，通过全外显子组测序和Sanger测序发现患者及其母亲检测到SERPINB7基因8号外显子存在突变，现将结果报道如下。

1 资料与方法

1.1 病例资料

患者女，17岁，因“掌跖部位皮疹17年”就诊。患者出生后不久掌跖部位出现红斑，随年龄的增长，掌跖部位皮肤增长，出现斑块、角化、脱屑，无痒无痛。在当地医院按……