Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene.
Richard J L F LemmersPatrick J van der VlietAna BlatnikJudit BalogJanez ZidarDon HendersonRianne GoselinkStephen J TapscottNicol C VoermansRabi TawilGeorge W A M PadbergBaziel Gm van EngelenSilvère M van der MaarelPublished in: Journal of medical genetics (2021)
This study shows that in rare situations, FSHD can occur on chromosome 10 due to an interchromosomal rearrangement with the FSHD locus on chromosome 4q. These findings provide further evidence that DUX4 derepression is the dominant disease pathway for FSHD. Hence, therapeutic strategies should focus on DUX4 as the primary target.