Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital, London, UK.
Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Eur J Paediatr Neurol. 2018 Mar;22(2):245-256. doi: 10.1016/j.ejpn.2017.11.009. Epub 2017 Dec 15.
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.
2016 年，两个研究小组独立鉴定出早发性进行性肌张力障碍患者赖氨酸特异性组蛋白甲基转移酶 2B 基因（KMT2B）中的微缺失和致病性变异。KMT2B-肌张力障碍（DYT28）正成为儿童起病进行性全身性肌张力障碍的一个重要且常见的病因，据估计可能占早发性全身性肌张力障碍的 10%。在此，我们回顾了与肌张力障碍相关的 KMT2B 变异，以及临床表现、治疗和潜在疾病机制。此外，在这一新发现的疾病背景下，我们总结了我们对儿科肌张力障碍遗传研究的方法。
