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A Novel Mutation in KMT2B Gene Causing Childhood-onset Generalized Dystonia with Expanded Phenotype from India.

Neurology India - 1 Jan 2000

Padmanabha Hansashree, Awati Akash M, Thomas Kurian, K Sarma Gosala R

Abstract excerpt

Mutations in KMT2B (lysine-specific methyltransferase 2B) gene, which is primarily involved in methylation of Histone3lys4 (H3K4), has been recently described to cause early-onset generalized progressive dystonia (DYT28) by two independent researchers. Unlike other primary dystonias, mutations in KMT2B gene is associated with additional features like dysmorphism (elongated face, bulbous nose), microcephaly, short...

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PMID: 34747823
DOI: 10.4103/0028-3886.329561

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