Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants
| Autor: | 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 |
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| Přispěvatelé: | 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) |
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male Charcot-Marie-Tooth Hearing loss media_common.quotation_subject [SDV]Life Sciences [q-bio] Nonsense Scoliosis Deafness Cohort Studies 03 medical and health sciences Young Adult 0302 clinical medicine Charcot-Marie-Tooth Disease SH3TC2 Medicine Missense mutation Humans 030212 general & internal medicine Child Gene media_common Aged Genetics business.industry Intracellular Signaling Peptides and Proteins Genetic Variation Middle Aged medicine.disease Phenotype 3. Good health Neuropathy Peripheral neuropathy Neurology NGS Mutation Female Neurology (clinical) France medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Journal of the Neurological Sciences Journal of the Neurological Sciences, Elsevier, 2019, 406, pp.116376. ⟨10.1016/j.jns.2019.06.027⟩ |
| ISSN: | 1878-5883 0022-510X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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