Whole exome sequencing in patients with white matter abnormalities.
Ontology highlight
ABSTRACT:
SUBMITTER: Vanderver A
PROVIDER: S-EPMC5354169 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Publications
Whole exome sequencing in patients with white matter abnormalities.
Vanderver Adeline A Simons Cas C Helman Guy G Crawford Joanna J Wolf Nicole I NI Bernard Geneviève G Pizzino Amy A Schmidt Johanna L JL Takanohashi Asako A Miller David D Khouzam Amirah A Rajan Vani V Ramos Erica E Chowdhury Shimul S Hambuch Tina T Ru Kelin K Baillie Gregory J GJ Grimmond Sean M SM Caldovic Ljubica L Devaney Joseph J Bloom Miriam M Evans Sarah H SH Murphy Jennifer L P JLP McNeill Nathan N Fogel Brent L BL Schiffmann Raphael R van der Knaap Marjo S MS Taft Ryan J RJ
Annals of neurology 20160509 6
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 diagnose ...[more]
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