Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
Ημερομηνία
2021Γλώσσα
en
Λέξη-κλειδί
Επιτομή
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.
Collections
Related items
Showing items related by title, author, creator and subject.
-
HDAC7 is a major contributor in the pathogenesis of infant t(4;11) proB acute lymphoblastic leukemia
de Barrios O., Galaras A., Trincado J.L., Azagra A., Collazo O., Meler A., Agraz-Doblas A., Bueno C., Ballerini P., Cazzaniga G., Stam R.W., Varela I., De Lorenzo P., Valsecchi M.G., Hatzis P., Menéndez P., Parra M. (2021)[No abstract available] -
Lncrnas as chromatin regulators in cancer: From molecular function to clinical potential
Begolli R., Sideris N., Giakountis A. (2019)During the last decade, high-throughput sequencing efforts in the fields of transcriptomics and epigenomics have shed light on the noncoding part of the transcriptome and its potential role in human disease. Regulatory ... -
ERK signaling controls productive HIF-1 binding to chromatin and cancer cell adaptation to hypoxia through HIF-1α interaction with NPM1
Koukoulas K., Giakountis A., Karagiota A., Samiotaki M., Panayotou G., Simos G., Mylonis I. (2021)The hypoxia-inducible factor HIF-1 is essential for oxygen homeostasis. Despite its well-understood oxygen-dependent expression, regulation of its transcriptional activity remains unclear. We show that phosphorylation by ...