Related Experiment Video
Updated: Mar 30, 2026
Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
Expanding Phenotype of VRK1 Mutations in Motor Neuron Disease
Thy P Nguyen1, Suur Biliciler, Wojciech Wiszniewski
1*Department of Neurology, University of Texas Health Science Center at Houston, Houston, TX; and †Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Objective:
In the past decade, hereditary forms of motor neuron disease (spinal muscular atrophy and/or amyotrophic lateral sclerosis) are increasingly identified. As advanced genetic testing is performed, molecular diagnosis can be obtained. Identifying new gene mutations can lead to further understanding of disease.
Methods And Results:
We report a single case of a patient with early-onset amyotrophic lateral sclerosis, evaluated at University of Texas Health Houston Science Center from 2011-2014. Initial genetic testing did not reveal an etiology in this patient. Through whole-exome sequencing, a VRK1 mutation was identified.
Conclusions And Relevance:
We identify a possible new cause of hereditary amyotrophic lateral sclerosis, VRK1 mutation. This case report also expands the phenotypic spectrum of this mutation in neurologic diseases.
More Related Videos
10:41Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction
Published on: May 12, 2016
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
