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

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:406

Article

Lerat, J.^1,2  Magdelaine, C.^2,3  Lunati, A.^2,3  Dzugan, H.^2,3  Dejoie, C.³  Rego, M.³  Beyrie, P. Beze⁴  Bieth, E.⁵  Calvas, P.⁵  Cintas, P.⁶  Delaubrier, A.⁷  Demurger, F.⁸  Gilbert-Dussardier, B.^9,10  Goizet, C.¹¹  Journel, H.⁸  Laffargue, F.¹²  Magy, L.^2,13  Taithe, F.¹⁴  Toutain, A.¹⁵  Urtizberea, J. A.¹⁶  Sturtz, F.^2,3  Lia, A. S.^2,3 

[1] CHU Limoges, Serv Otorhinolaryngol, Limoges, France

[2] Univ Limoges, EA6309, Limoges, France

[3] CHU Limoges, Serv Biochim & Genet Mol, Limoges, France

[4] Ctr Hosp Pau, Pediat, Pau, France

[5] CHU Toulouse, Serv Genet Med, Toulouse, France

[6] CHU Toulouse, Serv Neurol & Explorat Fonct, Toulouse, France

[7] CHU Poitiers, Serv Med Phys & Reeduc, Poitiers, France

[8] Ctr Hosp Bretagne Atlantique, Serv Genet Med, Vannes, France

[9] CHU Poitiers, Serv Genet Med, Poitiers, France

[10] Univ Poitiers, EA3808, Poitiers, France

[11] CHU Bordeaux, Serv Neurogenet, Bordeaux, France

[12] Ctr Hosp Univ Clermont Ferrand, Serv Genet Med, Limoges, France

[13] CHU Limoges, Serv Neurol, Limoges, France

[14] Ctr Hosp Univ Clermont Ferrand, Serv Neurol, Limoges, France

[15] CHU Tours, Serv Genet, Tours, France

[16] Ctr Hosp Hendaye, AP HP, Filnemus, Ctr Competence Neuromusculaire, Filnemus, France

关键词: Charcot-Marie-Tooth;    Neuropathy;    Hearing loss;    Scoliosis;    SH3TC2;    NGS;   

DOI  :  10.1016/j.jns.2019.06.027

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

Free