A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.

Bianca Rose GroszStephen TischMichel C TchanVictor S C FungPaul DarvenizaAvi FellnerManju A KurianAlison McLeanSusan E TomlinsonRenee SmythSophie DeveryKathy H C WuMarina L Kennerson Kishore Raj Kumar

Published in: Molecular genetics & genomic medicine (2022)

To our knowledge, this is the first report of a KMT2B synonymous variant associated with dystonia. Reassessment of synonymous variants may increase diagnostic yield for inherited disorders including monogenic dystonia. This is of clinical importance, given the generally favourable response to deep brain stimulation for KMT2B-related dystonia.

Keyphrases

deep brain stimulation
parkinson disease
obsessive compulsive disorder
healthcare
case report
early onset
gene expression