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The first world’s report de novo missense mutation in the SYT2 gene causing distal hereditary motor neuropathy

Distal hereditary motor neuropathies are a large group of genetically heterogeneous diseases characterized by symptoms of progressive polyneuropathy with predominant wasting of distal limbs muscles. A patient with a rare form of distal motor neuropathy caused by the c.917C>T (p.Ser306Leu) mutation in the SYT2 gene was examined at RCMG. This is the first world’s de novo variant described in this gene. To date, four families with SYT2-associated neuropathy are known.

Genes (IF 3.759, Q2) published the results of the study.

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