Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
Charcot-Marie-Tooth
Hearing loss
NGS
Neuropathy
SH3TC2
Scoliosis
Journal
Journal of the neurological sciences
ISSN: 1878-5883
Titre abrégé: J Neurol Sci
Pays: Netherlands
ID NLM: 0375403
Informations de publication
Date de publication:
15 Nov 2019
15 Nov 2019
Historique:
received:
23
01
2019
revised:
07
06
2019
accepted:
24
06
2019
pubmed:
22
10
2019
medline:
15
9
2020
entrez:
22
10
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31634715
pii: S0022-510X(19)30287-4
doi: 10.1016/j.jns.2019.06.027
pii:
doi:
Substances chimiques
Intracellular Signaling Peptides and Proteins
0
SH3TC2 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
116376Informations de copyright
Copyright © 2019 Elsevier B.V. All rights reserved.