Copy Number Variations in a Case with Intractable Epilepsy, Intellectual Disability, and Hereditary Neuropathy with Liability to Pressure Palsies Having a 17p12 Deletion

Abstract

Some copy number variations (CNVs) in DNA are associated with the development of pathological phenotypes. Regarding the diagnosis of recurrent radial nerve palsies, a 73-year-old female patient with intractable epilepsy and intellectual disability was diagnosed with duplicated 15q11.1-11.2, in addition to a deletion of 17p12, causing hereditary neuropathy with liability to pressure palsies. CNVs in 15q11.1-11.2 have been reported in patients with schizophrenia and autism. Although CNVs are also sometimes seen in healthy individuals, duplicated 15q11.1-11.2 could be associated with CNS symptoms in this patient.