Whole exome sequencing in patients with white matter abnormalities

• DOI: 10.1002/ana.24650
• Publication Date: 2016-05-09T17:09:28Z
• Authors: Adeline Vanderver; Cas Simons; Guy Helman; Joanna Crawford; Nicole I. Wolf; Geneviève 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 Devaney; Miriam Bloom; Sarah H. Evans; Jennifer L. P. Mu...; Nathan McNeill; Brent L. Fogel; ; Raphael Schiffmann; Marjo S. van der ...; Ryan J. Taft
• Keywords: Exome

Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities suspected diagnosis leukodystrophy or genetic leukoencephalopathy. WES analyses were performed trio, greater, family groups. Diagnostic pathogenic variants identified in 35% (25 71) patients. Potentially clinically relevant genes further 7% (5 cases, giving total yield clinical diagnoses 42% individuals. These findings provide evidence that can substantially decrease the number cases. Ann Neurol 2016;79:1031–1037