Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Epigenetics"
DOI: 10.1186/s13148-021-01145-y
Abstract: Background Dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements and/or postures. Heterozygous variants in lysine methyltransferase 2B ( KMT2B ), encoding a… read more here.
Keywords: hypermethylation; dystonia; kmt2b variants; kmt2b ... See more keywords
Child Neurology: KMT2B-Related Dystonia in a Young Child With Worsening Gait Abnormality.
Sign Up to like & getrecommendations! Published in 2023 at "Neurology"
DOI: 10.1212/wnl.0000000000207300
Abstract: KMT2B gene related dystonia (DYT-KMT2B) is a primarily childhood onset movement disorder that usually starts with lower limb dystonia progressing into generalized dystonia. Our patient described here experienced difficulty gaining weight, laryngomalacia and feeding difficulties… read more here.
Keywords: related dystonia; neurology; child; kmt2b ... See more keywords
Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report
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DOI: 10.3389/fgene.2024.1346044
Abstract: The lysine methyltransferase 2B (KMT2B) gene product is important for epigenetic modifications associated with active gene transcription in normal development and in maintaining proper neural function. Pathogenic variants in KMT2B have been associated with childhood-onset… read more here.
Keywords: diagnosis; kmt2b related; early diagnosis; kmt2b ... See more keywords