Whole Exome Sequencing in Patients with White Matter Abnormalities

Adeline Vanderver, Cas Simons, Guy Helman, Joanna Crawford, Nicole I. Wolf, Genevieve Bernard, Amy Pizzino, Johanna L. Schmidt, Asako Takanohashi, David Miller, Amirah Khouzam, Vani Rajan, Erica Ramos, Shimul Chowdhury, Tina Hambuch, Kelin Ru, Gregory J. Baillie, Sean M. Grimmond, Ljubica Caldovic, Joseph DevaneyMiriam Bloom, Sarah H. Evans, Jennifer L. P. Murphy, Nathan McNeill, Brent L. Fogel, Raphael Schiffmann, Marjo S. van der Knaap, Ryan J. Taft

Research output: Contribution to journalArticleAcademicpeer-review


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.
Original languageEnglish
Pages (from-to)1031-1037
JournalAnnals of Neurology
Issue number6
Publication statusPublished - Jun 2016

Cite this