Article
A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.
Molecular genetics & genomic medicine - 1 Dec 2022
Tinker Rory J, Guess Tiffany, Rinker David C, Sheehan Jonathan H, Lubarsky Daniel, Porath Binu, Mosera Mackenzie, Mayo Ping, Solem Emily, Lee Laura A, Sharam Asha, Brault Jennifer
Abstract excerpt
BACKGROUND: A de novo, pathogenic, missense variant in UBTF, c.628G>A p.Glu210Lys, has been described as the cause of an emerging neurodegenerative disorder, Childhood-Onset Neurodegeneration with Brain Atrophy (CONDBA). The p.Glu210Lys alteration yields a positively charged stretch of three lysine residues. Functional studies confirmed this change results in a stronger interaction with negatively charged DNA and...
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