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Zech, M. ; Lam, D.D. ; Winkelmann, J.

Update on KMT2B-related dystonia.

Curr. Neurol. Neurosci. Rep. 19:92 (2019)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Purpose of Review To summarize the molecular and clinical findings of KMT2B-related dystonia (DYT-KMT2B), a newly identified genetic dystonia syndrome. Recent Findings Since first described in 2016, 66 different KMT2B-affecting variants, encompassing a set of frameshift, nonsense, splice-site, missense, and deletion mutations, have been reported in 76 patients. Most mutations are de novo and expected to mediate epigenetic dysregulation by inducing KMT2B haploinsufficiency. DYT-KMT2B is characterized phenotypically by limb-onset childhood dystonia that tends to spread progressively, resulting in generalized dystonia with cranio-cervical involvement. Co-occuring signs such as intellectual disability are frequently observed. Sustained response to deep brain stimulation (DBS), including restoration of independent ambulation, is seen in 93% (27/29) of patients. DYT-KMT2B is emerging as a prevalent monogenic dystonia. Childhood-onset dystonia presentations should prompt a search for KMT2B mutations, preferentially via next-generation-sequencing and genomic-array technologies, to enable specific counseling and treatment. Prospective multicenter studies are desirable to establish KMT2B mutational status as a DBS outcome predictor.
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Publication type Article: Journal article
Document type Review
Keywords Generalized Dystonia ; Childhood Dystonia ; De Novo Mutation ; Haploinsufficiency ; Lysine-specifc Methyltransferase Family ; Deep Brain Stimulation; De-novo Mutations; Kmt2b; Variants; Mll2; Haploinsufficiency; Schizophrenia; Phenotype; Sequence; Insights; Deletion
Language english
Publication Year 2019
HGF-reported in Year 2019
ISSN (print) / ISBN 1528-4042
e-ISSN 1534-6293
Journal Current Neurology and Neuroscience Reports
Quellenangaben Volume: 19, Issue: 11, Pages: , Article Number: 92 Supplement: ,
Publisher Current Science Inc.
Publishing Place One New York Plaza, Suite 4600, New York, Ny, United States
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
POF-Topic(s) 30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503200-001
DOI 10.1007/s11910-019-1007-y
WOS ID WOS:000519056800002
WOS ID WOS:000513919900002
Scopus ID 85075496031
PubMed ID 31768667
Erfassungsdatum 2019-12-02
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