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Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects

13 Aug 2021

Abstract excerpt

The true prevalence of facioscapulohumeral muscular dystrophy (FSHD) is unknown due to difficulties with accurate clinical evaluation and the complexities of current genetic diagnostics. Interestingly, all forms of FSHD are linked to epigenetic changes in the chromosome 4q35 D4Z4 macrosatellite, suggesting that epigenetic analysis could provide an avenue for sequence-based FSHD diagnostics. However, studies...

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PMID: 34441403
DOI: 10.3390/diagnostics11081469

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Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy SubjectsPMID 34441403Read ↗

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Facioscapulohumeral Muscular Dystrophy As a Model for Epigenetic Regulation and DiseaseSemantic proximity Read ↗

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelinesSemantic proximity Read ↗

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The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.Semantic proximity Read ↗

Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophySemantic proximity Read ↗

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.Semantic proximity Read ↗

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