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Case Report

Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy

1
Federal State Budgetary Institution “Research Centre For Medical Genetics”, Moscow 115478, Russia
2
Federal State Budget Healthcare Institution “Central Children Clinical Hospital” at FMBA of Russia, Moscow 115409, Russia
*
Author to whom correspondence should be addressed.
Genes 2020, 11(11), 1238; https://doi.org/10.3390/genes11111238
Received: 15 September 2020 / Revised: 19 October 2020 / Accepted: 20 October 2020 / Published: 22 October 2020
(This article belongs to the Special Issue Genetic Basis of Sensory and Neurological Disorders)
Objective: To report the first de novo missense mutation in the SYT2 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 de novo missense mutation, c.917C>T (p.Ser306Leu), in the C2B domain of SYT2. 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 SYT2 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 SYT2-associated neuropathy should be based on the similarity of clinical manifestations, rather than the results of electrophysiological testing. View Full-Text
Keywords: hereditary motor neuropathy; SYT2 mutation; first de novo mutation; electrophysiological testing hereditary motor neuropathy; SYT2 mutation; first de novo mutation; electrophysiological testing
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MDPI and ACS Style

Mironovich, O.; Dadali, E.; Malmberg, S.; Markova, T.; Ryzhkova, O.; Poliakov, A. Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy. Genes 2020, 11, 1238. https://doi.org/10.3390/genes11111238

AMA Style

Mironovich O, Dadali E, Malmberg S, Markova T, Ryzhkova O, Poliakov A. Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy. Genes. 2020; 11(11):1238. https://doi.org/10.3390/genes11111238

Chicago/Turabian Style

Mironovich, Olga, Elena Dadali, Sergey Malmberg, Tatyana Markova, Oxana Ryzhkova, and Aleksander Poliakov. 2020. "Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy" Genes 11, no. 11: 1238. https://doi.org/10.3390/genes11111238

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