Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases

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 KMT...

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Bibliographic Details
Published in:Molecular biology reports 2021, Vol.48 (1), p.371-379
Main Authors: Marogianni, Chrysoula, Georgouli, Despoina, Dadouli, Katerina, Ntellas, Panagiotis, Rikos, Dimitrios, Hadjigeorgiou, Georgios M., Spanaki, Cleanthi, Xiromerisiou, Georgia
Format: Article
Language:English
Subjects:
Age
Animal Anatomy
Animal Biochemistry
Biomedical and Life Sciences
Dystonia
Genotypes
Histology
Histone methyltransferase
Life Sciences
Lysine
Minority & ethnic groups
Morphology
Mutation
Original Article
Pathogenicity
Phenotypes
Systematic review
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Summary: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.
ISSN:0301-4851
1573-4978
DOI:10.1007/s11033-020-06057-3