Whole exome sequencing in patients with white matter abnormalities
- 9 May 2016
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 79 (6), 1031-1037
- https://doi.org/10.1002/ana.24650
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;79:1031–1037Funding Information
- Fonds de Recherche du Québec - Santé
- Australian Research Council
- National Health and Medical Research Council (APP1068278)
- ZonMw (91211005)
- National Institute of Mental Health (K08MH086297)
- National Institute of Neurological Disorders and Stroke (R01NS082094)
- National Center for Advancing Translational Sciences (UL1TR000075)
- Myelin Project
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