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. 2019 Nov 15:406:116376.
doi: 10.1016/j.jns.2019.06.027. Epub 2019 Jun 26.

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

J Lerat  1 , C Magdelaine  2 , A Lunati  2 , H Dzugan  2 , C Dejoie  3 , M Rego  3 , P Beze Beyrie  4 , E Bieth  5 , P Calvas  5 , P Cintas  6 , A Delaubrier  7 , F Demurger  8 , B Gilbert-Dussardier  9 , C Goizet  10 , H Journel  8 , F Laffargue  11 , L Magy  12 , F Taithe  13 , A Toutain  14 , J A Urtizberea  15 , F Sturtz  2 , A S Lia  2
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Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

J Lerat et al. J Neurol Sci. .

Abstract

The autosomal recessive demyelinating form of Charcot-Marie-Tooth can be due to SH3TC2 gene pathogenic variants (CMT4C, AR-CMTde-SH3TC2). 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)). The recurrent variant p.Arg954* was present in 62%, and seems to be a founder mutation. The phenotype is fairly homogeneous, as all these patients, except the youngest ones, presented scoliosis and/or hearing loss.

Keywords: Charcot-Marie-Tooth; Hearing loss; NGS; Neuropathy; SH3TC2; Scoliosis.

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