DYT28: Dystonia 28

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

DYT28: Dystonia 28. This is caused by mutations in the KMT2B gene on chromosome 19. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the KMT2B gene on chromosome 19
  • The transmission is autosomal dominant
  • It causes infantile or childhood onset dystonia

Clinical features

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Dysmorphic features

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Associated features

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Magnetic resonance imaging (MRI) brain

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Treatment

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References

  1. Meyer E, Carss KJ, Rankin J, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet 2017; 49:223-237. 
  2. Zech M, Boesch S, Maier EM, et al. Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2b, results in early-onset generalized dystonia. Am J Hum Genet 2016; 99:1377-1387.
  3. Siow SF, Kumar KR. New gene implicated in early-onset generalized dystonia: Lysine-specific methyltransferase 2B (KMT2B). Mov Disord 2017; 32:395.
  4. Peall KJ, Robertson NP. Dystonia: opportunities to gain insights into underlying pathophysiological mechanisms. J Neurol 2017; 264:616-618. 
  5. Carecchio M, Invernizzi F, Gonzàlez-Latapi P, et al. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. Mov Disord 2019; 34:1516-1527. 
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