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. 2022 Jul 15;4:937879. doi: 10.3389/fgeed.2022.937879

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Copyright © 2022 Mariot and Dumonceaux.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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The locus D4Z4 and molecular mechanisms leading of FSHD. The D4Z4 locus is composed of 11–100 repeats in healthy individuals and is highly methylated. FSHD1 patients present a contraction of the D4Z4 array (1–10 units left) leading to chromatin relaxation. FSDH2 patients present also a chromatin relaxation that is mediated by mutations in epigenetic modifier genes. FSHD occurs when the D4Z4 array is relaxed and DUX4 expressed. DUX4 expression is uniquely associated with the 4qA haplotype, which carries the DUX4 p(A).