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Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia

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.

Type Journal
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.;
Garvan Authors
Publisher Name NEUROLOGY
Published Date 2016-01-01 00:00:00
Published Volume 87
Published Issue 1
Published Pages 65-70
URL http://www.ncbi.nlm.nih.gov/pubmed/27281532
Status Published In-print
OpenAccess Link https://publications.gimr.garvan.org.au/download.php?13829_13691/2016-Stoll-Neurology.pdf