Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia
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.
|ISBN||1526-632X (Electronic) 0028-3878 (Linking)|
|Authors||Stoll, M. ; Teoh, H. ; Lee, J. ; Reddel, S. ; Zhu, Y. ; Buckley, M. ; Sampaio, H. ; Roscioli, T. ; Farrar, M. ; Nicholson, G.;|
|URL link to publisher's version||http://www.ncbi.nlm.nih.gov/pubmed/27281532|
|OpenAccess link to author's accepted manuscript version||https://publications.gimr.garvan.org.au/open-access/13829|