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A severe case of status dystonicus caused by a de novo KMT2B missense mutation
- 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.
- Subjects :
- Dystonia
Deep brain stimulation
business.industry
In silico
medicine.medical_treatment
Mutation, Missense
Histone-Lysine N-Methyltransferase
General Medicine
medicine.disease
Bioinformatics
Status dystonicus
nervous system diseases
Phenotype
Histone methyltransferase
Genetics
Humans
Medicine
Missense mutation
Effective treatment
Female
Child
business
Genetics (clinical)
Exome sequencing
Subjects
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