MUSCLE FUNCTION &amp; HOMEOSTASIS / MOLECULAR THERAPEUTIC APPROACHES

Özeş, Burçak; Murrey, Douglas A.; Myers, Morgan; Chen, L.; Moss, Kyle; Ridgley, Alicia; Wier, Christopher G.; Sahenk, Zarife

doi:10.1016/j.nmd.2020.08.071

Cited by 1 publication

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“…In recent years, novel therapeutic strategies have emerged for addressing hereditary disorders, including advancements in gene replacement therapy, antisense oligonucleotides, and other innovative approaches (Eggermann et al, 2020;Wang et al, 2020). Significant progress has been made in the development of medications targeting hereditary neuropathy and other monogenic diseases (Gautier et al, 2021;Pisciotta et al, 2021;Ozes et al, 2022). Notably, gene replacement therapy holds particular significance in the context of recessive neuropathy, where the loss of gene function is implicated.…”

Section: Introductionmentioning

confidence: 99%

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease

Shchagina,

Murtazina,

Chausova

et al. 2024

Front. Genet.

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Introduction:Charcot–Marie–Tooth disease type 4C (CMT4C) OMIM#601596 stands out as one of the most prevalent forms of recessive motor sensory neuropathy worldwide. This disorder results from biallelic pathogenic variants in the SH3TC2 gene.Methods:Within a cohort comprising 700 unrelated Russian patients diagnosed with Charcot–Marie–Tooth disease, we conducted a gene panel analysis encompassing 21 genes associated with hereditary neuropathies. Among the cohort, 394 individuals exhibited demyelinating motor and sensory neuropathy.Results and discussion:Notably, 10 cases of CMT4C were identified within this cohort. The prevalence of CMT4C among Russian demyelinating CMT patients lacking the PMP22 duplication is estimated at 2.5%, significantly differing from observations in European populations. In total, 4 novel and 9 previously reported variants in the SH3TC2 gene were identified. No accumulation of a major variant was detected. Three previously reported variants, c.2860C>T p. (Arg954*), p. (Arg658Cys) and c.279G>A p. (Lys93Lys), recurrently detected in unrelated families. Nucleotide alteration p. (Arg954*) is present in most of our patients (30%).

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