Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia

Marion Stoll, Hooiling Teoh, James Lee, Stephen Reddel, Ying Zhu, Michael Buckley, Hugo Sampaio, Tony Roscioli, Michelle Farrar, Garth Nicholson*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

29 Citations (Scopus)


Objective: To describe the phenotypes in 2 families with vaccinia-related kinase 1 (VRK1) mutations including one novel VRK1 mutation. Methods: VRK1 mutations were found by whole exome sequencing in patients presenting with motor neuron disorders. Results: We identified pathogenic mutations in the VRK1 gene in the affected members of 2 families. In family 1, compound heterozygous mutations were identified in VRK1, c.356A>G; p.H119R, and c.1072C>T; p.R358∗, in 2 siblings with adult onset distal spinal muscular atrophy (SMA). In family 2, a novel VRK1 mutation, c.403G>A; p.G135R and c.583T>G; p.L195V, were identified in a child with motor neuron disease. Conclusions: VRK1 mutations can produce adult-onset SMA and motor neuron disease in children without pontocerebellar hypoplasia.

Original languageEnglish
Pages (from-to)65-70
Number of pages6
Issue number1
Publication statusPublished - 5 Jul 2016
Externally publishedYes


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