Topic: MRD57

MRD57 (or autosomal dominant 57) is a rare neurodevelopmental disorder linked to genetic mutations in the serine/threonine kinase, TLK2. MRD57 is characterised by TLK2 haploinsufficiency and in some cases, its loss or impaired kinase function. TLK2 is an established cell cycle regulator, and in contrast to MRD57, cancers upregulate TLK2 activity to drive tumour growth. MRD57 patients have a range of clinical phenotypes including delayed psychomotor development, language delay, hypotonia, gastrointestinal issues, dysmorphic facial features and global developmental delay. However, the neuronal f