Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.
Mol Biol Rep
; 48(1): 371-379, 2021 Jan.
Article
en En
| MEDLINE
| ID: mdl-33300088
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.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
N-Metiltransferasa de Histona-Lisina
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Isoformas de Proteínas
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Distonía
Tipo de estudio:
Diagnostic_studies
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Systematic_reviews
Límite:
Adult
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Female
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Humans
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Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Mol Biol Rep
Año:
2021
Tipo del documento:
Article
País de afiliación:
Grecia