Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

We report on a series of 13 patients with AR-CMTde-SH3TC2 among a French cohort of 350 patients suffering from all type of inheritance peripheral neuropathy. The SH3TC2 gene appeared to be the most frequently mutated gene for demyelinating neuropathy in this series by NGS. Four new pathogenic variants have been identified: two nonsense variants (p.(Tyr970*), p.(Trp1199*)) and two missense variants (p.(Leu1126Pro), p.(Ala1206Asp)).

Source: Journal of the Neurological Sciences - June 25, 2019 Category: Neurology Authors: J. Lerat, C. Magdelaine, A. Lunati, H. Dzugan, C. Dejoie, M. Rego, E. Bieth, P. Calvas, P. Cintas, A. Delaubrier, F. Demurger, B. Gilbert-Dussardier, C. Goizet, H. Journel, F. Laffargue, L. Magy, F. Taithe, A. Toutain, J.A. Urtizberea, F. Sturtz, A.S. Lia Tags: Clinical Short Communication Source Type: research