POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy.
Hitoshi KashikiHeng LiSachiko MiyamotoHiroe UenoYoshinori TsurusakiChizuru IkedaHirofumi KurataTakumi OkadaTomoyuki ShimazuHoseki ImamuraYumi EnomotoJun-Ichi TakanashiKenji KurosawaHirotomo SaitsuKen InouePublished in: Neurology. Genetics (2020)
The lack of characteristic clinical findings in this family confirmed the broad clinical spectrum of Pol III-related leukodystrophy. Molecular studies suggested that dysregulation of splicing is the potential downstream pathomechanism for POLR1C variants.
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