ArticleEuropean journal of human genetics : EJHG2023
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 25 citations in OpenAlex.
- Genomic Copy Number Variants Associated With Strabismus and Amblyopia in the All of Us Research Program.Investigative ophthalmology & visual science · 2026Article
- Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.Journal of human genetics · 2026Article
- Identification of Copy Number Variations in Familial Hemiplegic Migraine Genes in Suspected Hemiplegic Migraine Patients.Biomedicines · 2026Article
- Recurrent DNA break clusters drive replication-stress-induced copy number variants and genome diversification.Nature communications · 2026Article
- High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.Clinical genetics · 2026Article
- Copy Number Variant Duplications Associated with Essential Tremor.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Article
- Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.Scientific reports · 2025Article
- The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies.Journal of cardiovascular development and disease · 2025Review
- Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32.European journal of human genetics : EJHG · 2025Article
- IntragenicThe application of clinical genetics · 2025Article
- Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.European journal of human genetics : EJHG · 2025Article
- Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases.Developmental medicine and child neurology · 2025Article
- Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.NPJ genomic medicine · 2024Article
- Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.Scientific reports · 2024Article
- Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2024Article
- The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.Kidney international reports · 2024Article
- Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases.Scientific reports · 2024Article
- The complex genomics of single gene disorders.European journal of human genetics : EJHG · 2023Article
- Genetic landscape of Parkinson's disease and related diseases in Luxembourg.Frontiers in aging neuroscience · 2023Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Various groups of neurological disorders, including movement disorders and neuromuscular diseases, are clinically and genetically heterogeneous. Diagnostic panel-based exome sequencing is a routine test for these disorders. Despite the success rates of exome sequencing, it results in the detection of causative sequence variants in 'only' 25-30% of cases. Copy number variants (CNVs), i.e. deletion or duplications, explain 10-20% of individuals with multisystemic phenotypes, such as co-existing intellectual disability, but may also have a role in disorders affecting a single system (organ), like neurological disorders with normal intelligence. In this study, CNVs were extracted from clinical exome sequencing reports of 4800 probands primarily with a movement disorder, myopathy or neuropathy. In 88 (~2%) probands, phenotype-matching CNVs were detected, representing ~7% of genetically confirmed cases. CNVs varied from involvement of over 100 genes to single exons and explained X-linked, autosomal dominant, or - recessive disorders, the latter due to either a homozygous CNV or a compound heterozygous CNV with a sequence variant on the other allele. CNVs were detected affecting genes where deletions or duplications are established as a common mechanism, like PRKN (in Parkinson's disease), DMD (in Duchenne muscular dystrophy) and PMP22 (in neuropathies), but also genes in which no intragenic CNVs have been reported to date. Analysis of CNVs as part of panel-based exome sequencing for genetically heterogeneous neurological diseases provides an additional diagnostic yield of ~2% without extra laboratory costs. Therefore it is recommended to perform CNV analysis for movement disorders, muscle disease, neuropathies, or any other single-system disorder.
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