{"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":"<p><p>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.</p>","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}
引用次数: 0
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.
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.
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