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This study aims to explore the relationship between D4Z4 methylation levels and disease severity in borderline FSHD patients.

April 3, 2026PeerJOpen Access

Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study

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This study aims to explore the relationship between D4Z4 methylation levels and disease severity in borderline FSHD patients.
Conducted a retrospective cohort study at a single center (Fujian Neuromedical Centre, China).
Quantified methylation levels using bisulfite sequencing and performed whole-exome sequencing (WES).
Evaluated phenotypic classification with the Comprehensive Clinical Evaluation Form (CCEF) and assessed motor function through various clinical scores.
Borderline D4Z4 repeat unit patients showed milder phenotypes and lower methylation levels compared to those with 4–7 repeat units.
Significant negative correlations were found between methylation levels and clinical severity scores.
Lower methylation levels were linked to higher disease penetrance and increased risk of lower extremity involvement.

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Retrospective cohort study shows D4Z4 methylation associations with disease progression in borderline FSHD, indicating clinical relevance.

Lin et al. (2026) studied this question.

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Retrospective cohort study shows D4Z4 methylation associations with disease progression in borderline FSHD, indicating clinical relevance.