Evidence map›Paper›PMID 37277924›Full record

ArticleESC heart failure2023

Identification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease.

Di Fu, Shuai Wang, Yonghong Luo, Sha Wu, Daoquan Peng

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

Article in ESC heart failure, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 21% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. World journal of clinical cases · 2025
    Article
  2. Altered Splicing ofMedicina (Kaunas, Lithuania) · 2024
    Article
  3. Review
  4. 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

5 authors at 2 institutions in 1 country.

Di FuDepartment of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University, 410011, Hunan, Changsha, No. 139 Middle Renmin Road, China.
Shuai WangDepartment of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University, 410011, Hunan, Changsha, No. 139 Middle Renmin Road, China.
Yonghong LuoDepartment of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University, 410011, Hunan, Changsha, No. 139 Middle Renmin Road, China.
Sha WuDepartment of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University, 410011, Hunan, Changsha, No. 139 Middle Renmin Road, China.
Daoquan PengDepartment of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University, 410011, Hunan, Changsha, No. 139 Middle Renmin Road, China.
Central South University · CNSecond Xiangya Hospital of Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimsThis study aimed to identify a novel splicing-altering LAMP2 variant associated with Danon disease. METHODS AND

resultsTo identify the potential genetic mutation in a Chinese pedigree, whole-exome sequencing was conducted in the proband, and Sanger sequencing was performed on the proband's parents. To verify the impact of the splice-site variant, a minigene splicing assay was applied. The AlphaFold2 analysis was used to analyse the mutant protein structure. A splice-site variant (NM_013995.2:c.864+5G>A) located at intron 6 of the LAMP2 gene was identified as a potential pathogenic variant. The minigene splicing revealed that this variant causes exon 6 to be skipped, resulting in a truncated protein. The AlphaFold2 analysis showed that the mutation caused a protein twist direction change, leading to conformational abnormality.

conclusionsA novel splice-site variant (NM_013995.2:c.864+5G>A) located at intron 6 of the LAMP2 gene was identified. This discovery may enlarge the LAMP2 variant spectrum, promote accurate genetic counselling, and contribute to the diagnosis of Danon disease.

Indexed as

Glycogen Storage Disease Type IIbRNA SplicingEast Asian PeopleHumansLysosomal-Associated Membrane Protein 2MutationPedigreeLAMP2 protein, humanLysosomal-Associated Membrane Protein 2Danon diseaseGenetic diagnosisLAMP2Minigene assaySplicing mutation

Identifiers

PMID37277924
PMCPMC10375081
OpenAlexW4379509289

What OpenQuestion 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 OpenQuestion graph.