Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.

ABSTRACT:

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.

Methods

Data were retrospectively analyzed by medical charts revision.

Results

Patient 1, a 16-year-old boy, presented a childhood-onset slowly progressive neurodegenerative disorder

SUBMITTER: Pietra A 

PROVIDER: S-EPMC10683853 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature