Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy.

Liangliang QiuZhixian YeLin LinLili WangXiaodan LinJunjie HeFeng LinGuorong XuNaiqing CaiMing JinHaizhu ChenMinting LinNing WangZhi-Qiang Wang

Published in: Journal of medical genetics (2020)

Broadly, this large mosaic FSHD cohort exhibited significant clinical heterogeneity and relatively slight disease severity. Both genotypic severity scale and D4Z4 hypomethylation status served as modifiers of clinical phenotypes. Consistent with previous reports, mitotic interchromosomal/intrachromosomal gene conversion without crossover was here identified as a major genetic mechanism underlying mosaic FSHD.

Keyphrases

copy number
genome wide
emergency department
randomized controlled trial
clinical trial
cell cycle
dna methylation
early onset
adverse drug