ArticleMolecular genetics & genomic medicine2020
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 4 citations in OpenAlex.
- An international retrospective early natural history study of LAMA2-related dystrophies.Journal of neuromuscular diseases · 2024Article
- Identification ofTranslational pediatrics · 2024Article
- Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.Neurogenetics · 2024Article
- Merosin-deficient congenital muscular dystrophy type 1a: detection ofFrontiers in genetics · 2023Article
- Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
12 authors at 6 institutions in 4 countries.
Funding
Abstract
backgroundCongenital muscular dystrophy type 1A (MDC1A), also termed merosin-deficient congenital muscular dystrophy (CMD), is a severe form of CMD caused by mutations in the laminin α2 gene (LAMA2). Of the more than 300 likely pathogenic variants found in the Leiden Open Variant Database, the majority are truncating mutations leading to complete LAMA2 loss of function, but multiple copy number variants (CNVs) have also been reported with variable frequency.
methodsWe collected a cohort of individuals diagnosed with likely MDC1A and sought to identify both single nucleotide variants and small and larger CNVs via exome sequencing by extending the analysis of sequencing data to detect splicing changes and CNVs.
resultsStandard exome analysis identified multiple novel LAMA2 variants in our cohort, but only four cases carried biallelic variants. Since likely truncating LAMA2 variants are often found in heterozygosity without a second allele, we performed additional splicing and CNV analysis on exome data and identified one splice change outside of the canonical sequences and three CNVs, in the remaining four cases.
conclusionsOur findings support the expectation that a portion of MDC1A cases may be caused by at least one CNV allele and show how these changes can be effectively identified by additional analysis of existing exome data.
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