ArticleScientific reports2018
Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 40 citations in OpenAlex.
- A novel mouse model foreLife · 2025Article
- A Spectrum of Pathogenic Variants in theInternational journal of molecular sciences · 2025Article
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- Comprehensive analysis of immune-related lncRNAs and their clinical relevance in gastric adenocarcinoma.Functional & integrative genomics · 2023Article
- Unique genotype-phenotype correlations withinFrontiers in neurology · 2023Article
- Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.Journal of neurology · 2022Article
- Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.Orphanet journal of rare diseases · 2021Article
- Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.Molecular genetics & genomic medicine · 2020Article
- Fat mass- and obesity-associated (FTO) gene promoted myoblast differentiation through the focal adhesion pathway in chicken.3 Biotech · 2020Article
- [Clinical features and LAMA2 mutations of patients with congenital muscular dystrophy type 1A: a case report and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Review
- LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness.Frontiers in molecular neuroscience · 2020Review
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19 authors at 5 institutions in 1 country.
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Abstract
Although recessive mutations in LAMA2 are already known to cause laminin α2-related muscular dystrophy, a rare neuromuscular disorder, large deletions or duplications within this gene are not well-characterized. In this study, we applied next-generation sequencing-based copy number variation profiling in 114 individuals clinically diagnosed with laminin α2-related muscular dystrophy, including 96 who harboured LAMA2 mutations and 34 who harboured intragenic rearrangements. In total, we detected 18 distinct LAMA2 copy number variations that have been reported only among Chinese, 10 of which are novel. The frequency of CNVs in the cohort was 19.3%. Deletion of exon 4 was detected in 10 alleles of eight patients, accounting for 27% of all copy number variations. These patients are Han Chinese and were found to have the same haplotype and sequence at the breakpoint junction, suggesting that exon 4 deletion is a founder mutation in Chinese Han and a mutation hotspot. Moreover, the data highlight our approach, a modified next-generation sequencing assay, as a robust and sensitive tool to detect LAMA2 variants; the assay identifies 85.7% of breakpoint junctions directly alongside sequence information. The method can be applied to clinical samples to determine causal variants underlying various Mendelian disorders.
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