Evidence map›Paper›PMID 39665495›Full record

ArticleJournal of clinical laboratory analysis2024

The β-Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia.

Chen Qian, Chaoyu Huang, Qinghui Luo, Kaili Qin, Yangyang Wu, Lin Liao, Qian Zhang, Liqun Xiang, Jie Yan

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical laboratory analysis, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Chen QianDepartment of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.
Chaoyu HuangDepartment of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.
Qinghui LuoDepartment of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.
Kaili QinDepartment of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.
Yangyang WuDepartment of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.
Lin LiaoDepartment of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.
Qian ZhangOrganizing Personnel Section, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.
Liqun XiangDepartment of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.
Jie YanDepartment of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.ORCID https://orcid.org/0000-0001-6096-0263

Funding

Guangxi Zhuang Autonomous Region Health Commission self-funded project Z20210617Guangxi Zhuang Autonomous Region Health Commission self-funded project Z-A20220407the National Natural Science Foundation of China NO.81800130
6 · The paper itself

Abstract

backgroundCongenital hypofibrinogenemia, a quantitative fibrinogen disorder, is characterized by abnormally low levels of both functional and antigen fibrinogen. We identified a heterozygous nonsense mutation, p.Arg17Stop, in the fibrinogen Bβ chain of a three-month-old female infant.

methodsCoagulation testing, gene analysis, in vitro plasmid construction, and functional analyses were conducted to investigate the underlying pathogenic mechanisms.

resultsPlasma fibrinogen levels showed decrease in the proband. DNA sequencing of the proband revealed a heterozygous point mutation (c.139C>T) in exon 2 of the FGB gene causing Arg → Stop substitution. Human Arg17 was found to be highly conserved. In vitro expression analyses indicated that the mutation impacts both the transcription and translation of the FGB gene, subsequently affecting the synthesis and secretion of fibrinogen.

conclusionsThe p.Arg17Stop mutation in the fibrinogen Bβ chain disrupts fibrinogen production and secretion, contributing to hypofibrinogenemia.

Indexed as

AfibrinogenemiaCodon, NonsenseFibrinogenFemaleHumansInfantCodon, NonsenseFGB protein, humanFibrinogenFGB mutationhypofibrinogenemianonsense mutation

Identifiers

PMID39665495
PMCPMC11659728

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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.