Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
Remko GoossensMarlinde L van den BoogaardRichard J L F LemmersJudit BalogPatrick J van der VlietIris M WillemsenJulie SchoutenIgnazio MaggioNienke van der StoepWytske M van WeerdenStephen J TapscottNiels GeijsenManuel A F V GonçalvesSabrina SacconiRabi TawilSilvère M van der MaarelPublished in: Journal of medical genetics (2019)
The estimated intronic mutation frequency of almost 2% in FSHD2, as exemplified by the two novel intronic SMCHD1 variants identified here, emphasises the importance of screening for intronic variants in SMCHD1. Furthermore, the efficient suppression of DUX4 after restoring SMCHD1 levels by genome editing of the mutant allele provides further guidance for therapeutic strategies.