Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

Background A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant ({"type":"entrez-nucleotide","attrs":{"text":"NM_001076683.1","term_id":"115529450","term_text":"NM_001076683.1"}}NM_001076683.1:c.628G>A, hg19). Phenotype is consistent among these probands with progressive motor, cognitive, and behavioural regression in early to middle childhood.