A Novel Duplication Mutation in the < b > < i > Myelin Protein Zero < /i > < /b > Gene Causing Mild, Nonprogressive Demyelinating Neuropathy

We present a father and daughter with neuropathy carrying a novel 31 base pair duplication mutation in the 5 ′ untranslated region of theMPZ gene, c.-23_8dup31. Genetic analysis and protein modeling indicated that this is a frameshift mutation resulting in premature truncation of the encoded protein. The daughter underwent repeat neurological examination and electromyography testing over an 11-year time span demonstrating no clinical or electrophysiological change. Our study expands the clinical and genetic spectrum of mutations that can cause CMT type 1B disease and demonstrates the value of sequence analysis of noncoding portions of a gene that are not intronic.Case Rep Neurol 2020;12:255 –259
Source: Case Reports in Neurology - Category: Neurology Source Type: research