| Summary: | Objective: To report the first <i>de novo</i> missense mutation in the <i>SYT2</i> gene causing distal hereditary motor neuropathy. Methods: Genetic testing was carried out, including clinical exome sequencing for the proband and Sanger sequencing for the proband and his parents. We described the clinical and electrophysiological features found in the patient. Results: We reported a proband with a new <i>de novo</i> missense mutation, c.917C>T (p.Ser306Leu), in the C2B domain of <i>SYT2.</i> The clinical presentation was similar to that of phenotypes described in previous studies. A notable feature in our study was normal electrophysiological testing results of the patient. Conclusions: In this study we reinforced the association between <i>SYT2</i> mutations and distal hereditary motor neuropathy. We also described the clinical presentation of the patient carrying this pathogenic variant and provided unusual results of electrophysiological testing. The results showed that a diagnosis of <i>SYT2</i>-associated neuropathy should be based on the similarity of clinical manifestations, rather than the results of electrophysiological testing.
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