Evidence map›Paper›PMID 36452351›Full record

ArticleFrontiers in pediatrics2022

Case Report: Novel LIM domain-binding protein 3 (LDB3) mutations associated with hypertrophic cardiomyopathy family.

Junmin Zheng, Zhuangzhuang Huang, Shan Hou, Xunwei Jiang, Yongwei Zhang, Wei Liu, Jia Jia, Yun Li, Xiaomin Sun, Lijian Xie and 3 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.7field-weighted citation impact, top 29% of its field
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

0 citing papers in PubMed, 5 citations in OpenAlex.

No citing paper in PubMed yet.

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

13 authors at 2 institutions in 1 country.

Junmin ZhengDepartment of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.
Zhuangzhuang HuangDepartment of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.
Shan HouDepartment of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.
Xunwei JiangDepartment of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.
Yongwei ZhangDepartment of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.
Wei LiuDepartment of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.
Jia JiaShanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Center for Biomedical Informatics, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.
Yun LiDepartment of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.
Xiaomin SunDepartment of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.
Lijian XieDepartment of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.
Xiaopei ZhaoDepartment of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.
Cuilan HouDepartment of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.
Tingting XiaoDepartment of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.
Shanghai Jiao Tong University · CNShanghai Children's Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant cardiomyopathy, which is one of the most common reasons for cardiac arrest in children or adolescents. It is characterized by ventricular hypertrophy (usually left ventricle), small ventricular cavity, and reduced ventricular diastolic compliance found by echocardiography in the absence of abnormal load (such as hypertension or aortic stenosis). HCM is usually caused by mutations in genes encoding sarcomere or sarcomere-related genes. Whole exome sequencing (WES) is performed to identify probable causative genes. Through WES, we identified LIM domain-binding protein 3 (LDB3) mutations (R547Q and P323S) respectively in an 11-year-old HCM girl and a 6-year-old HCM boy. Neural network analyses showed that the LDB3 (R547Q and P323S) mutation decreased its protein stability, with confidence scores of -0.9211 and -0.8967. The STRUM server also confirmed that the mutation decreased its protein stability. Thus, LDB3 mutation may be associated with heritable HCM. To our knowledge, this is the first time to report LDB3 heterozygous variants (R547Q and P323S) responsible for heritable HCM.

Indexed as

gene mutationhypertrophic cardiomyopathyLIM domain-binding protein 3protein stabilitywhole exome sequencing

Identifiers

PMID36452351
PMCPMC9702808
OpenAlexW4308900312

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Registered trials

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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.