Here, we present the case of a 15-year-old Japanese girl with Dystonia 28, childhood-onset; DYT28 (MIM#606834) showing early-onset generalized progressive dystonia and status dystonicus. The patient was genetically undiagnosed and had not responded to various medications. By trio-based whole exome sequencing and in silico analyses, we identified a de novo heterozygous variant of KMT2B: NM_014727.2: c.7828C > T, p(Arg2610Cys). Globus pallidus internus deep brain stimulation (GPi-DBS) therapy was considered; however, the therapy could not be performed due to the patient's poor nutritional status and repeated infections. GPi-DBS is considered to be an effective treatment for patients with KMT2B mutations, and genetic diagnosis is important before progression to status dystonicus.

在这里，我们介绍了一个15岁的日本女孩，患有Dystonia 28，儿童时期；DYT28（MIM＃606834）显示早期发作的广泛性进行性肌张力障碍和状态肌张力障碍。该患者没有遗传诊断，对各种药物均无反应。通过基于三重的整体外显子组测序和计算机分析，我们确定了KMT2B的从头杂合变体：NM_014727.2：c.7828C> T，p（Arg2610Cys）。曾考虑苍白球内部深部脑刺激（GPi-DBS）治疗；但是，由于患者营养状况差和反复感染，无法进行治疗。GPi-DBS被认为是治疗KMT2B患者的有效方法 突变，遗传诊断在进展为肌张力异常之前很重要。