ArticleJournal of human genetics2026
Integrated genetic and epigenetic diagnosis of facioscapulohumeral muscular dystrophy using Oxford Nanopore long-read sequencing.
Article in Journal of human 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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15 authors.
Funding
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is a genetically and epigenetically complex disorder in which the comprehensive characterization of the D4Z4 repeat array remains challenging. We applied Oxford Nanopore long-read sequencing (ONT-LRS) to three patients with FSHD, one unaffected control, and a trio family to simultaneously characterize D4Z4 repeat size, haplotype, DNA methylation, and genomic structure. Results were validated by Southern blotting, single-molecule optical mapping and bisulfite sequencing. ONT-LRS enabled integrated characterization of D4Z4 repeat size, haplotype, single-molecule methylation, and genomic structure. Single-molecule methylation profiling revealed reduced and heterogeneous methylation across individual D4Z4 repeats. Reference-guided haplotype-resolved assembly generated consensus sequences spanning the D4Z4 array and flanking regions. By applying the assembled consensus sequences, we identified a deletion outside the D4Z4 region and precisely localized its breakpoint in the trio family. These findings demonstrate that ONT-LRS enables comprehensive genetic and epigenetic characterization of FSHD in a single assay, providing a potentially valuable approach for molecular diagnosis and facilitating investigation of genotype-phenotype relationships. 1. ONT-LRS enables direct measurement of D4Z4 repeat and repeat-level methylation, with high concordance to SB, SMOM, and bisulfite sequencing. 2. ONT-LRS is applied to generate the first consensus D4Z4 sequence in Chinese FSHD patients and to achieve accurate breakpoint mapping.
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Registered trials
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