Evidence map›Paper›PMID 39478039›Full record

ArticleScientific reports2024

Novel association of LBX1 mutation with tetralogy of Fallot and hypertrophic cardiomyopathy: implications for cardiac development.

Peiwen Cheng, Guozhen Wang, Yingzi Song, Yong An

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

Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

2 citing papers in PubMed.

  1. Review
  2. Review
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

4 authors.

Peiwen ChengDepartment of Thoracic Surgery, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Guozhen WangDepartment of Thoracic Surgery, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Yingzi SongDepartment of Thoracic Surgery, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Yong AnDepartment of Thoracic Surgery, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China. incavnate@126.com.

Funding

Chongqing Natural Science Foundation Upper-level Project CSTB2023NSCQ-MSX0579National Natural Science Foundation of China (NSFC) NSFC 81370432
6 · The paper itself

Abstract

backgroundTetralogy of Fallot (TOF) and hypertrophic cardiomyopathy (HCM) are common types of congenital heart disease with unique pathophysiologic features. Mutations in LBX1, a key regulator of muscle precursor cell migration, may disrupt these critical developmental processes, resulting in severe developmental abnormalities. CASE PRESENTATION: This case reports on a 4-year-old girl diagnosed with both TOF and HCM. Genetic analysis revealed iUPI-F (uniparental disomy) on the entire chromosome 10, with a c.808G > A (p. Glu270Lys) pure mutation in the LBX1.

conclusionThis patient exhibited both TOF and HCM with mutations in the LBX1 gene, suggesting a potentially novel genetic link. This case study emphasizes the need for further studies on the function of the LBX1 gene in cardiac development and its potential impact on TOF and HCM.

Indexed as

Cardiomyopathy, HypertrophicMutationTetralogy of FallotChild, PreschoolFemaleHomeodomain ProteinsHumansTranscription FactorsHomeodomain ProteinsLBX1 protein, humanTranscription FactorsHypertrophic cardiomyopathyLBX1Tetralogy of FallotUniparental disomy

Identifiers

PMID39478039
PMCPMC11525995

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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 Socratic graph.