Methylation hotspots in people with facioscapulohumeral dystrophy and mosaicism


  • Alterations in DNA methylation can be quantified by sodium bisulfite and deep sequencing, which can be used to distinguish the different types of facioscapulohumeral dystrophy (FSHD) and mosaicism.

Why this matters

  • Methylation status has not previously been explored in more complex cases of FSHD1, in those presenting with mosaicism.

  • In the future, D4Z4 methylation could be used to evaluate people with FSHD, given the wide spectrum of FSHD-associated genotypes.