遗传因子XII缺乏症家族中一个新的纯合移码突变（p.Lys365Glnfs*69）：一个病例报告。

IF 0.6 4区医学 Q4 HEMATOLOGY

Journal of Hematopathology Pub Date : 2025-07-07 DOI:10.1007/s12308-025-00644-8

Cao Li, Lin Chen, Jintu Lou, Zhaoyang Peng

{"title":"遗传因子XII缺乏症家族中一个新的纯合移码突变（p.Lys365Glnfs*69）：一个病例报告。","authors":"Cao Li, Lin Chen, Jintu Lou, Zhaoyang Peng","doi":"10.1007/s12308-025-00644-8","DOIUrl":null,"url":null,"abstract":"Factor XII (FXII) deficiency is a rare autosomal recessive disorder characterized by prolonged activated partial thromboplastin time (APTT) without bleeding diathesis. Genetic diagnosis is critical to avoid unnecessary interventions. An 8-year-old boy with incidentally prolonged APTT (> 170 s) was referred for preoperative evaluation. FXII activity was 7.7%. No personal/family history of bleeding or thrombosis was reported. Genetic testing revealed F12: c.1092dup homozygous mutations in F12, inherited from his parents. Familial segregation confirmed autosomal recessive transmission. The identification of these mutations expands our understanding of the genetic basis of factor XII deficiency and emphasizes the importance of genetic diagnosis in such cases.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"18 1","pages":"29"},"PeriodicalIF":0.6000,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A novel homozygous frameshift mutation (p.Lys365Glnfs*69) in a family with hereditary factor XII deficiency: a case report.\",\"authors\":\"Cao Li, Lin Chen, Jintu Lou, Zhaoyang Peng\",\"doi\":\"10.1007/s12308-025-00644-8\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Factor XII (FXII) deficiency is a rare autosomal recessive disorder characterized by prolonged activated partial thromboplastin time (APTT) without bleeding diathesis. Genetic diagnosis is critical to avoid unnecessary interventions. An 8-year-old boy with incidentally prolonged APTT (> 170 s) was referred for preoperative evaluation. FXII activity was 7.7%. No personal/family history of bleeding or thrombosis was reported. Genetic testing revealed F12: c.1092dup homozygous mutations in F12, inherited from his parents. Familial segregation confirmed autosomal recessive transmission. The identification of these mutations expands our understanding of the genetic basis of factor XII deficiency and emphasizes the importance of genetic diagnosis in such cases.\",\"PeriodicalId\":51320,\"journal\":{\"name\":\"Journal of Hematopathology\",\"volume\":\"18 1\",\"pages\":\"29\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2025-07-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Hematopathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s12308-025-00644-8\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Hematopathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12308-025-00644-8","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

因子XII （FXII）缺乏症是一种罕见的常染色体隐性遗传病，其特征是活化的部分凝血活素时间（APTT）延长而不伴有出血。基因诊断对于避免不必要的干预至关重要。一个8岁的男孩偶然延长APTT （bbb170 s）被转介术前评估。FXII活性为7.7%。无出血或血栓形成的个人/家族史报告。基因检测显示F12: c.1092dup纯合突变，遗传自父母。家族分离证实常染色体隐性遗传。这些突变的鉴定扩大了我们对因子XII缺乏的遗传基础的理解，并强调了在这种情况下基因诊断的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

A novel homozygous frameshift mutation (p.Lys365Glnfs*69) in a family with hereditary factor XII deficiency: a case report.

Factor XII (FXII) deficiency is a rare autosomal recessive disorder characterized by prolonged activated partial thromboplastin time (APTT) without bleeding diathesis. Genetic diagnosis is critical to avoid unnecessary interventions. An 8-year-old boy with incidentally prolonged APTT (> 170 s) was referred for preoperative evaluation. FXII activity was 7.7%. No personal/family history of bleeding or thrombosis was reported. Genetic testing revealed F12: c.1092dup homozygous mutations in F12, inherited from his parents. Familial segregation confirmed autosomal recessive transmission. The identification of these mutations expands our understanding of the genetic basis of factor XII deficiency and emphasizes the importance of genetic diagnosis in such cases.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Journal of Hematopathology HEMATOLOGYPATHOLOGY-PATHOLOGY

CiteScore

0.80

自引率

0.00%

发文量

期刊介绍： The Journal of Hematopathology aims at providing pathologists with a special interest in hematopathology with all the information needed to perform modern pathology in evaluating lymphoid tissues and bone marrow. To this end the journal publishes reviews, editorials, comments, original papers, guidelines and protocols, papers on ancillary techniques, and occasional case reports in the fields of the pathology, molecular biology, and clinical features of diseases of the hematopoietic system. The journal is the unique reference point for all pathologists with an interest in hematopathology. Molecular biologists involved in the expanding field of molecular diagnostics and research on lymphomas and leukemia benefit from the journal, too. Furthermore, the journal is of major interest for hematologists dealing with patients suffering from lymphomas, leukemias, and other diseases. The journal is unique in its true international character. Especially in the field of hematopathology it is clear that there are huge geographical variations in incidence of diseases. This is not only locally relevant, but due to globalization, relevant for all those involved in the management of patients.