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.