Evidence map›Paper›PMID 40818008›Full record

ArticleJournal of applied genetics2026

Somatic and germinal mosaicism of a canonical splicing variant causing limb-girdle muscular dystrophy type 1B.

Guangyu Wang, Yaru Wang, Dandan Zhao, Chuanzhu Yan, Pengfei Lin

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Article in Journal of applied genetics, 2026. 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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1 · What the graph read from it

What it found

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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

5 authors.

Guangyu WangDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Wenhua Xi Road 107, Jinan, 250012, Shandong, China.
Yaru WangDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Wenhua Xi Road 107, Jinan, 250012, Shandong, China.
Dandan ZhaoDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Wenhua Xi Road 107, Jinan, 250012, Shandong, China.
Chuanzhu YanDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Wenhua Xi Road 107, Jinan, 250012, Shandong, China. chuanzhuyan@163.com.
Pengfei LinDepartment of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Wenhua Xi Road 107, Jinan, 250012, Shandong, China. lpfsdu@foxmail.com.ORCID http://orcid.org/0000-0002-0861-5785

Funding

National Natural Science Foundation of China 82271436Natural Science Foundation of Shandong Province ZR2023LSW020
6 · The paper itself

Abstract

Limb-girdle muscular dystrophy type 1B is one of several muscular dystrophies caused by pathogenic variants in the LMNA gene. In this study, we investigated the clinical, pathological, and genetic findings of an LGMD1B family. Genetic sequencing identified the proband and her younger brother both carried the canonical splicing c.513 + 1G > A variant in the LMNA gene. The variant was absent in the proband's mother, and a certain percentage of the LMNA variant was identified in the venous blood, urine, and semen sample of the proband's father by pyrophosphate sequencing. Further cDNA analysis demonstrated that the canonical splicing c.513 + 1G > A variant in intron 2 induced retention of the first 45 bp of intron 2, resulting in an in-frame insertion of 15 amino acids. Our study directly confirmed the presence of somatic and germinal mosaicism in the LGMD1B family and the pathogenicity of the canonical splicing variant in the LMNA gene.

Indexed as

Lamin Type AMosaicismMuscular Dystrophies, Limb-GirdleRNA SplicingAdultFemaleHumansIntronsMalePedigreeLamin Type ALMNA protein, humanIntron retentionLimb-girdle muscular dystrophy type 1BLMNAMosaicismSplicing variant

Identifiers

PMID40818008

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