1. Whole Exome Sequencing in Patients with White Matter Abnormalities
- Author
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Vanderver, A, Simons, C, Helman, G, Crawford, J, Wolf, NI, Bernard, G, Pizzino, A, Schmidt, JL, Takanohashi, A, Miller, D, Khouzam, A, Rajan, V, Ramos, E, Chowdhury, S, Hambuch, T, Ru, K, Baillie, GJ, Grimmond, SM, Caldovic, L, Devaney, J, Bloom, M, Evans, SH, Murphy, JLP, McNeill, N, Fogel, BL, Schiffmann, R, van der Knaap, MS, Taft, RJ, Vanderver, A, Simons, C, Helman, G, Crawford, J, Wolf, NI, Bernard, G, Pizzino, A, Schmidt, JL, Takanohashi, A, Miller, D, Khouzam, A, Rajan, V, Ramos, E, Chowdhury, S, Hambuch, T, Ru, K, Baillie, GJ, Grimmond, SM, Caldovic, L, Devaney, J, Bloom, M, Evans, SH, Murphy, JLP, McNeill, N, Fogel, BL, Schiffmann, R, van der Knaap, MS, and Taft, RJ
- Abstract
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy. WES analyses were performed on trio, or greater, family groups. Diagnostic pathogenic variants were identified in 35% (25 of 71) of patients. Potentially pathogenic variants were identified in clinically relevant genes in a further 7% (5 of 71) of cases, giving a total yield of clinical diagnoses in 42% of individuals. These findings provide evidence that WES can substantially decrease the number of unresolved white matter cases. Ann Neurol 2016;79:1031-1037.
- Published
- 2016