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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

Authors :
C. Dejoie
Justine Lerat
Cyril Goizet
Annick Toutain
M. Rego
P. Beze Beyrie
Corinne Magdelaine
F. Taithe
Jon Andoni Urtizberea
P Calvas
A. Delaubrier
Hubert Journel
Eric Bieth
Brigitte Gilbert-Dussardier
Hélène Dzugan
Laurent Magy
F. Demurger
F. Laffargue
Franck Sturtz
A. Lunati
Pascal Cintas
Anne-Sophie Lia
Service d'Oto-rhino-laryngologie (ORL) et chirurgie cervico-faciale [CHU Limoges]
CHU Limoges
Maintenance Myélinique et Neuropathies Périphériques (MMNP)
Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST)
Université de Limoges (UNILIM)-Université de Limoges (UNILIM)
Service de Biochimie et Génétique Moléculaire [CHU Limoges]
Centre hospitalier de Pau
Service de Génétique Médicale, CHU Toulouse, Toulouse, France.
CHU Toulouse, Departement de Neurologie
Service de Médecine Physique et rééducation - CHU Poitiers
Centre hospitalier universitaire de Poitiers (CHU Poitiers)
Service de Génétique Médicale - Centre Hospitalier Bretagne Atlantique
Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)
Cibles moléculaires et thérapeutiques de la maladie d'Alzheimer (CIMoTHeMA)
Université de Poitiers
Service Génétique Médicale [CHU Poitiers]
Service de neurogénétique - CHU Bordeaux
CHU Bordeaux [Bordeaux]
Service génétique Médicale - Centre Hospitalier Bretagne Atlantique
Service de Génétique Médicale [CHU Clermont-Ferrand]
CHU Estaing [Clermont-Ferrand]
CHU Clermont-Ferrand-CHU Clermont-Ferrand
Service de Neurologie [CHU Limoges]
Centre de référence national neuropathies périphériques rares [CHU Limoges]
Service de Neurologie [CHU Clermont-Ferrand]
CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Gabriel Montpied [Clermont-Ferrand]
CHU Clermont-Ferrand
Laboratoire de Génétique Moléculaire [CHU Tours]
Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS)
Centre compétence neuromusculaire, APHP, Centre Hospitalier Hendaye
CHU Gabriel Montpied [Clermont-Ferrand]
CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand]
Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)
Source :
Journal of the Neurological Sciences, Journal of the Neurological Sciences, Elsevier, 2019, 406, pp.116376. ⟨10.1016/j.jns.2019.06.027⟩
Publication Year :
2019

Abstract

International audience; 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.

Details

ISSN :
18785883 and 0022510X
Volume :
406
Database :
OpenAIRE
Journal :
Journal of the neurological sciences
Accession number :
edsair.doi.dedup.....192e7e21780912b14daea17b1f1171fa
Full Text :
https://doi.org/10.1016/j.jns.2019.06.027⟩