dc.creator | Marogianni C., Georgouli D., Dadouli K., Ntellas P., Rikos D., Hadjigeorgiou G.M., Spanaki C., Xiromerisiou G. | en |
dc.date.accessioned | 2023-01-31T08:57:42Z | |
dc.date.available | 2023-01-31T08:57:42Z | |
dc.date.issued | 2021 | |
dc.identifier | 10.1007/s11033-020-06057-3 | |
dc.identifier.issn | 03014851 | |
dc.identifier.uri | http://hdl.handle.net/11615/76389 | |
dc.description.abstract | Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient with a novel de novo variant and demonstrate the phenotypic spectrum of KMT2B variants. We performed whole exome sequencing (WES), in a Greek patient with sporadic generalized dystonia. Additionally, we performed a systematic review of all published cases with KMT2B variants. The patient presented with isolated and mild generalized dystonia. We identified a novel splice site variant that was confirmed by Sanger sequencing and was not found in parents. This is the first reported KMT2B variant, in the Greek population. This case report further highlights the growing trend of identifying genetic diseases previously restricted to few cases in many different ethnic groups worldwide via exome sequencing. In the systematic review, we evaluated the mutation pathogenicity in all previously reported cases to investigate possible phenotype-genotype correlations. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various KMT2B variants. © 2020, The Author(s), under exclusive licence to Springer Nature B.V. part of Springer Nature. | en |
dc.language.iso | en | en |
dc.source | Molecular Biology Reports | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85097413328&doi=10.1007%2fs11033-020-06057-3&partnerID=40&md5=8cfcf09f545422bffa06d735753f3f0b | |
dc.subject | botulinum toxin | en |
dc.subject | histone methyltransferase | en |
dc.subject | levodopa | en |
dc.subject | trihexyphenidyl | en |
dc.subject | chaperone | en |
dc.subject | histone | en |
dc.subject | histone lysine methyltransferase | en |
dc.subject | isoprotein | en |
dc.subject | KMT2B protein, human | en |
dc.subject | TOR1A protein, human | en |
dc.subject | adult | en |
dc.subject | Article | en |
dc.subject | case report | en |
dc.subject | clinical article | en |
dc.subject | clinical feature | en |
dc.subject | female | en |
dc.subject | gene mutation | en |
dc.subject | generalized dystonia | en |
dc.subject | genetic analysis | en |
dc.subject | genetic variability | en |
dc.subject | genotype phenotype correlation | en |
dc.subject | Greek (people) | en |
dc.subject | human | en |
dc.subject | KMT2B gene | en |
dc.subject | male | en |
dc.subject | mutational analysis | en |
dc.subject | pathogenicity | en |
dc.subject | Sanger sequencing | en |
dc.subject | systematic review | en |
dc.subject | whole exome sequencing | en |
dc.subject | dystonia | en |
dc.subject | exome | en |
dc.subject | genetic association study | en |
dc.subject | genetics | en |
dc.subject | Greece | en |
dc.subject | meta analysis | en |
dc.subject | mutation | en |
dc.subject | onset age | en |
dc.subject | pathology | en |
dc.subject | pedigree | en |
dc.subject | phenotype | en |
dc.subject | whole exome sequencing | en |
dc.subject | Adult | en |
dc.subject | Age of Onset | en |
dc.subject | Dystonia | en |
dc.subject | Exome | en |
dc.subject | Female | en |
dc.subject | Genetic Association Studies | en |
dc.subject | Greece | en |
dc.subject | Histone-Lysine N-Methyltransferase | en |
dc.subject | Histones | en |
dc.subject | Humans | en |
dc.subject | Male | en |
dc.subject | Molecular Chaperones | en |
dc.subject | Mutation | en |
dc.subject | Pedigree | en |
dc.subject | Phenotype | en |
dc.subject | Protein Isoforms | en |
dc.subject | Whole Exome Sequencing | en |
dc.subject | Springer Science and Business Media B.V. | en |
dc.title | Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases | en |
dc.type | journalArticle | en |