Department of Neurology, St Johns Medical College and Hospital, Bengaluru, Karnataka, India.
Neurol India. 2021 Sep-Oct;69(5):1400-1401. doi: 10.4103/0028-3886.329561.
Mutations in KMT2B (lysine-specific methyltransferase 2B) gene, which is primarily involved in methylation of Histone3lys4 (H3K4), has been recently described to cause early-onset generalized progressive dystonia (DYT28) by two independent researchers. Unlike other primary dystonias, mutations in KMT2B gene is associated with additional features like dysmorphism (elongated face, bulbous nose), microcephaly, short stature, and multisystemic involvement. Herein, we describe a 13-year-old boy with early-onset, generalized, progressive complex severe dystonia, along with mild intellectual disability, dysmorphism, and dermatological manifestations associated with a novel missense variation in KMT2B gene and also expand the phenotypic spectrum of the same.
KMT2B（赖氨酸特异性甲基转移酶 2B）基因突变，主要参与组蛋白 3 赖氨酸 4（H3K4）的甲基化，最近被两位独立的研究人员描述为导致早发性全身性进行性肌张力障碍（DYT28）的原因。与其他原发性肌张力障碍不同，KMT2B 基因突变与其他特征相关，如畸形（长脸、球根鼻）、小头畸形、身材矮小和多系统受累。在此，我们描述了一名 13 岁男孩，患有早发性、全身性、进行性复杂严重肌张力障碍，伴有轻度智力障碍、畸形和皮肤表现，与 KMT2B 基因突变的新型错义变异相关，并扩展了相同的表型谱。
