Early onset dystonia
Gene: KMT2B
PMID: 27992417 reports variants in 27 individuals with early onset dystonia. In 20 patients this was de novo, and in a further 3 cases was maternally inherited (with one mother with mild symptoms), suggesting possible incomplete penetrance in two cases. Microdeletions and variants predicted to cause protein truncating, splice defects or nonsense-mediated mRNA, and nonsynonymous missense variants are reported. In silico prediction and expression analysis were also carried out to support the findings.Created: 3 Jan 2017, 4:51 p.m.
Added the 'treatable' tag: the publication reports that bilateral globus pallidus interna deep brain stimulation (GPi-DBS) led to clinical benefit in patients with dystonia with KMT2B variants.Created: 3 Jan 2017, 4:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
early-onset dystonia
Publications
Phenotypes for gene: KMT2B were changed from early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284; early-onset dystonia
This gene has been classified as Green List (High Evidence).
KMT2B was created by ellenmcdonagh
KMT2B was added to Early onset dystoniapanel. Sources: Literature