Andrea Pietra, Flavia Palombo, Melania Giannotta, Monica Maffei, Claudio Fiorini, Roberta Costa, Giovanna Cenacchi, Valerio Carelli, Duccio Maria Cordelli, Antonella Pini, Caterina Garone
OBJECTIVES: UBTF1 gene encodes for Upstream Binding Transcription Factor, an essential protein for RNA metabolism. A recurrent de novo variant (c.628G>A; p.Glu210Lys) has recently been associated with a childhood-onset neurodegenerative disorder characterized by motor and language regression, ataxia, dystonia, and acquired microcephaly. In this study, we report the clinical, metabolic, molecular genetics and neuroimaging findings and histologic, histochemical, and electron microscopy studies in muscle samples of 2 patients from unrelated families with a neurodevelopmental disorder...
December 2023: Neurology. Genetics