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

Authors :
Tadashi Kaname
Takashi Tokashiki
Koichi Nakanishi
Kenji Naritomi
Yasutsugu Chinen
Kumiko Yanagi
Sadao Nakamura
Kazuhito Satou
Satoko Kumada
Source :
European Journal of Medical Genetics. 63:104057
Publication Year :
2020
Publisher :
Elsevier BV, 2020.

Abstract

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.

Details

ISSN :
17697212
Volume :
63
Database :
OpenAIRE
Journal :
European Journal of Medical Genetics
Accession number :
edsair.doi.dedup.....3a75af9e25367a6c5bd1cc4a527f08c3
Full Text :
https://doi.org/10.1016/j.ejmg.2020.104057