This website provides information regarding diseases associated with variants in the gene, KMT2B, including clinical data, molecular genetic data, management strategies and research projects.

In 2016, two research groups independently identified microdeletions encompassing, and pathogenic variants in the lysine-specific histone methyltransferase 2B gene, KMT2B, in patients with early-onset progressive dystonia. KMT2B-dystonia (DYT28) is emerging as an important and frequent cause of childhood-onset progressive generalised dystonia.

This website was created to share and collect information about clinical management strategies and research projects to gather more knowledge and provide better treatment strategies for patients with mutations in the KMT2B gene.

Manju Kurian, BA, MBChB, MRCPCH, PhD, NIHR Research Professorship, Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health Department of Neurology, Great Ormond Street Hospital, London, UK, manju.kurian@ucl.ac.uk

Kathleen Gorman, Honorary Clinical Fellow, UCL Great Ormond Street Institute of Child Health, London, UK, k.gorman@ucl.ac.uk