分析1个遗传性凝血因子Ⅻ（FⅫ）缺乏症患者的临床表型及基因检测结果，探讨中国人群遗传性FⅫ缺乏症的临床特点及分子生物学特征。

用回顾性分析方法，对1例遗传性FⅫ缺乏症先证者进行临床病例资料采集，并对其亲属进行凝血功能相关实验室检查及基因突变分析。此外，检索中国知网数据库、万方数据知识服务平台及PubMed数据库中关于中国人群遗传性FⅫ缺乏症的中、英文相关文献，检索时间设定为数据库建库至2023年9月30日，总结中国人群遗传性FⅫ缺乏患者的临床表现、实验室特征以及基因突变特征。

先证者为37岁女性产妇，孕期前无临床出血或血栓形成病史，产前检查结果显示活化部分凝血活酶时间（APTT）>120 s，FⅫ活性（FⅫ:C）及抗原水平（FⅫ:Ag）均为1%，基因测序检测携带F12基因c.303_304del:p.His101Glnfs*36和c.1092dupC:p.Lys365Glnfs*69复合杂合突变，行剖宫产手术过程中以及围手术期均无过量出血。先证者的父亲、母亲、哥哥、长女、次女及儿子均为杂合突变携带者，FⅫ:C及FⅫ:Ag存在不同程度的降低，但均无异常出血史或血栓病史。文献复习共筛选45篇中英文文献，共计报道87例中国人群遗传性FⅫ缺乏症患者，临床表现方面未见明显的临床出血或是血栓形成倾向。所有患者中共计报道F12基因突变42个，突变种类以错义突变比例最多（23个，52.4%）；突变分布上以催化区（Peptidase S）结构域最常见（23个，52.4%）；检出比例最高的为c.1681G>A:p.Gly561Ser突变（16例，19.3%），其次为c.1561G>A:p.Glu521Lys突变（12例，14.3%）。

本研究报道了1例携带F12基因复合杂合突变的遗传性FⅫ缺乏症患者及家系特征，并总结了中国人群遗传性FⅫ缺乏症患者的临床特征，分析中国人群F12基因突变的分子生物学特点，为后续系统性研究提供了基础。

To analyze the clinical phenotype and genetic testing results of a patient with inherit factor Ⅻ (FⅫ) deficiency, and to explore the clinical and molecular biological characteristics of FⅫ deficiency in the Chinese population.

Clinical case data were collected from proband with inherit FⅫ deficiency, and coagulation function-related laboratory tests and gene analysis were performed on family members. Additionally, literature searches were conducted in the China National Knowledge Infrastructure (CNKI) database, Wanfang Data Knowledge Service Platform, and PubMed database for relevant Chinese and English literature on FⅫ deficiency in the Chinese population, with the search period up to September 30th, 2023. The findings summarized the clinical manifestations, laboratory characteristics, and gene mutation features of FⅫ deficiency patients in the Chinese population.

The proband was a 37-year-old female parturient, with prenatal examination results indicating an activated partial thromboplastin time (APTT) exceeding 120 s, and factor Ⅻ activity (FⅫ:C) and antigen levels (FⅫ:Ag) both at 1%. The proband showed no history of clinical bleeding or thrombosis before pregnancy, and there was no excessive bleeding during the process of cesarean section surgery or the perioperative period. Gene sequencing revealed F12 gene compound heterozygous mutations, c.303_304del:p.His101Glnfs36 and c.1092dupC:p.Lys365Glnfs69. The proband's father, mother, brother, eldest daughter, second daughter, and son were all carriers of one heterozygous mutation, with varying degrees of reduction in FⅫ:C and FⅫ:Ag. A literature review identified 46 Chinese or English articles reporting a total of 87 cases of FⅫ deficiency in the Chinese population. There were no apparent clinical bleeding or thrombotic tendencies in terms of clinical manifestations. Among all patients, 42 F12 gene mutations were reported, with missense mutations being the most common (n=23, 52.4%). The catalytic (Peptidase S) domain was the most frequently affected structural domain (n=23, 52.4%). The most frequently detected mutation was c.1681G>A:p.Gly561Ser (n=16 cases, 19.3%), followed by c.1561G>A:p.Glu521Lys (n=12, 14.3%).

This study reports a case of inherit F Ⅻ deficiency with compound heterozygous mutations in the F12 gene, along with familial characteristics. The study summarizes the clinical features and analysis molecular biological characteristics of F12 gene mutations in the Chinese inherit FⅫ deficiency population, and provide a foundation for future systematic research.