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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
- 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.
- Subjects :
- 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
Subjects
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⟩