A severe case of status dystonicus caused by a de novo KMT2B missense mutation.

Sadao Nakamura, Yasutsugu Chinen, Kazuhito Satou, Takashi Tokashiki, Satoko Kumada, Kumiko Yanagi, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi

European journal of medical genetics 2020 Nov

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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. Copyright © 2020. Published by Elsevier Masson SAS.

Citation

Sadao Nakamura, Yasutsugu Chinen, Kazuhito Satou, Takashi Tokashiki, Satoko Kumada, Kumiko Yanagi, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi. A severe case of status dystonicus caused by a de novo KMT2B missense mutation. European journal of medical genetics. 2020 Nov;63(11):104057