Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variants

Abstract

This study provides a comprehensive description of POLR3-HLD caused by biallelic <i>POLR1C</i> 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.