AUTHOR=Shchagina Olga , Murtazina Aysylu , Chausova Polina , Orlova Mariya , Dadali Elena , Kurbatov Sergei , Kutsev Sergey , Polyakov Aleksander 

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

JOURNAL=Frontiers in Genetics

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2024.1381915

DOI=10.3389/fgene.2024.1381915

ISSN=1664-8021

ABSTRACT=<sec><title>Introduction:</title><p>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 <italic>SH3TC2</italic> gene.</p></sec><sec><title>Methods:</title><p>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.</p></sec><sec><title>Results and discussion:</title><p>Notably, 10 cases of CMT4C were identified within this cohort. The prevalence of CMT4C among Russian demyelinating CMT patients lacking the <italic>PMP22</italic> duplication is estimated at 2.5%, significantly differing from observations in European populations. In total, 4 novel and 9 previously reported variants in the <italic>SH3TC2</italic> gene were identified. No accumulation of a major variant was detected. Three previously reported variants, c.2860C&gt;T p. (Arg954*), p. (Arg658Cys) and c.279G&gt;A p. (Lys93Lys), recurrently detected in unrelated families. Nucleotide alteration p. (Arg954*) is present in most of our patients (30%).</p></sec>