Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.

Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. Eur J Paediatr Neurol. 2017 Dec 15;: Authors: Gorman KM, Meyer E, Kurian MA Abstract In 2016, two research groups independently identified microdeletions 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 and is estimated to potentially account for up to 10% of early-onset generalised dystonia. Herein, we review variants in KMT2B associated with dystonia, as well as the clinical phenotype, treatment and underlying disease mechanisms. Furthermore, in context of this newly identified condition, we summarise our approach to the genetic investigation of paediatric dystonia. PMID: 29289525 [PubMed - as supplied by publisher]
Source: European Journal of Paediatric Neurology - Category: Neurology Authors: Tags: Eur J Paediatr Neurol Source Type: research