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Article

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.

Molecular genetics & genomic medicine - 1 May 2022

Grosz Bianca R, Tisch Stephen, Tchan Michel C, Fung Victor S C, Darveniza Paul, Fellner Avi, Kurian Manju A, McLean Alison, Tomlinson Susan E, Smyth Renee, Devery Sophie, Wu Kathy H C, Kennerson Marina L, Kumar Kishore R

Abstract excerpt

BACKGROUND: Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073C>T (p.Gly1691=) was identified in an individual with childhood-onset progressive dystonia. METHODS: The splicing impact of c.5073C>T was assessed using an in vitro exon-trapping assay. The genomic region of KMT2B exons 23-26 was cloned into the pSpliceExpress plasmid between exon 2 and 3 of the rat...

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Identifiers

PMID: 35293157
DOI: 10.1002/mgg3.1923
PMCID: PMC9034664

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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