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This is a Quantitative Study study (also classified as: Experimental Study).

October 17, 2025Open Access

Rethinking genomics of Facioscapulohumeral Muscular Dystrophy in the Telomere-to-Telomere era: pitfalls in the hidden landscape of D4Z4 repeats

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Systematic re-analysis reveals D4Z4-like repeats across multiple chromosomes, indicating the need for repeat-aware diagnostics.

Many signals considered to arise from the pathogenic 4q locus originated from paralogous D4Z4 arrays on different chromosomes.
Using telomere-to-telomere genome assembly, the study identified structural completeness of D4Z4-like repeats and DUX4 encoding potential.
Standard primer sets for DUX4 detection amplify multiple loci beyond traditional 4q35 and 10q26, presenting diagnostic implications.
Combing advanced techniques like long-read sequencing and methylation-aware profiling may enhance FSHD diagnostics.

Tupler et al. (2025) studied this question.

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