Abstract
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.
GLOSSARY
- ALS=
- amyotrophic lateral sclerosis;
- dHMN + PS=
- distal hereditary motor neuronopathy and pyramidal tract signs;
- SMA=
- spinal muscular atrophies;
- WES=
- whole exome sequencing
Footnotes
Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article. The Article Processing charge was paid by the authors.
↵* These authors contributed equally to this work.
↵‡ These authors are co–senior authors.
- Received January 3, 2016.
- Accepted in final form March 17, 2016.
- © 2016 American Academy of Neurology
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