Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Laurence GauquelinFerdy K CayamiLászló SztrihaGrace YoonLuan T TranKether GuerreroFrançois HockeRosalina M L van SpaendonkEva L FungStefano D'ArrigoGessica VascoIsabelle ThiffaultDmitriy M NiyazovRichard PersonKara Stuart LewisEvangeline WassmerTrine PrescottPenny FallonMeriel McEntagartJulia RankinRichard WebsterHeike PhilippiBart van de WarrenburgDagmar TimmannAbhijit DixitClaire Searlenull nullNivedita ThakurMichael C KruerSuvasini SharmaAdeline VanderverDavide TondutiMarjo S van der KnaapEnrico BertiniCyril GoizetSébastien FribourgNicole I WolfGeneviève BernardPublished in: Neurology. Genetics (2019)
This study provides a comprehensive description of POLR3-HLD caused by biallelic POLR1C pathogenic variants based on the largest cohort of patients to date. These results suggest distinct characteristics of POLR1C-related disorder, with a spectrum of clinical involvement characterized by hypomyelinating leukodystrophy with or without abnormal craniofacial development reminiscent of TCS.