Evidence map›Paper›PMID 40622455›Full record

ArticleJournal of hematopathology2025

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

Cao Li, Lin Chen, Jintu Lou, Zhaoyang Peng

Abstract readCase Reports
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In one paragraph

Article in Journal of hematopathology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Cao LiChildren's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Department of Clinical Laboratory, Binsheng Road 3333, Zhejiang Province, Hangzhou, China.
Lin ChenChildren's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Department of Clinical Laboratory, Binsheng Road 3333, Zhejiang Province, Hangzhou, China.
Jintu LouChildren's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Department of Clinical Laboratory, Binsheng Road 3333, Zhejiang Province, Hangzhou, China. 6522100@zju.edu.cn.
Zhaoyang PengChildren's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Department of Clinical Laboratory, Binsheng Road 3333, Zhejiang Province, Hangzhou, China. chbj@zju.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Factor XIIFactor XII DeficiencyFrameshift MutationHomozygoteChildHumansMalePartial Thromboplastin TimePedigreeFactor XIIFrameshift mutationFXII geneHuman coagulation factor XII deficiencyPedigree

Identifiers

PMID40622455

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.