Ontology highlight
ABSTRACT:
SUBMITTER: Klein CJ
PROVIDER: S-EPMC5725965 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Annals of neurology 20170128 2
Intraneural perineuriomas are benign peripheral nerve sheath tumors that cause progressive debilitating focal extremity weakness. The etiology of perineuriomas is largely unknown. We utilized whole exome sequencing, copy number algorithm evaluation, and high-resolution whole genome microarray to investigate for a genetic causal link to intraneural perineuriomas. Ten of 16 (60%) tumor cases had mutations in the WD40 domain of TRAF7, the same location for causal mutations of meningiomas. Two addit ...[more]