ArticleMolecular genetics & genomic medicine2019
Clinical application of single-molecule optical mapping to a multigeneration FSHD1 pedigree.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25 citing papers in PubMed, 36 citations in OpenAlex.
- Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.Nature communications · 2026Article
- The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping.Orphanet journal of rare diseases · 2025Article
- Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report.Balkan journal of medical genetics : BJMG · 2024Article
- Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.Annals of laboratory medicine · 2024Article
- Article
- Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.Genes · 2023Article
- Article
- Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy.Neurology. Genetics · 2023Article
- Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline.European journal of human genetics : EJHG · 2023Article
- How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.Journal of inherited metabolic disease · 2022Review
- Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping.Blood advances · 2022Article
- High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.Human molecular genetics · 2022Article
- Chromosome 10q-linked FSHD identifiesJournal of medical genetics · 2022Article
- Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.Molecular genetics & genomic medicine · 2021Article
- Single-molecule optical genome mapping in nanochannels: multidisciplinarity at the nanoscale.Essays in biochemistry · 2021Article
- Prevalence and Phenotypic Impact of Robertsonian Translocations.Molecular syndromology · 2021Review
- CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis.Neurology · 2021Article
- Structural variation in the sequencing era.Nature reviews. Genetics · 2020Review
- Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping.Journal of assisted reproduction and genetics · 2020Article
- Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD).Journal of medical genetics · 2020Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionFacioscapulohumeral muscular dystrophy 1 (FSHD1) is a relatively common autosomal dominant adult muscular dystrophy with variable disease penetrance. The disease is caused by shortening of a D4Z4 repeat array located near the telomere of chromosome 4 at 4q35. This causes activation of a dormant gene DUX4, permitting aberrant DUX4 expression which is toxic to muscles. Molecular diagnosis of FSHD1 by Southern blot hybridization or FISH combing is difficult and time consuming, requiring specialist laboratories. As an alternative, we apply a novel approach for the diagnosis of FSHD1 utilizing single-molecule optical mapping (SMOM).
methodsLong DNA molecules with BssS1 enzyme marking were subjected to SMOM on the Bionano Genomics platform to determine the number of D4Z4 repeats. Southern blot and molecular combing were used to confirm the FSHD1 haplotypes.
resultsIn a study of a five-generation FSHD1 pedigree, SMOM correctly diagnosed the disease and normal haplotypes, identifying the founder 4qA disease allele as having 4 D4Z4 repeat units. Southern blot and molecular combing analysis confirmed the SMOM results for the 4qA disease and 4qB nondisease alleles.
conclusionBased on our findings, we propose that SMOM is a reliable and accurate technique suitable for the molecular diagnosis of FSHD1.
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