AI Article Synopsis
- Charcot-Marie-Tooth disease type 4C (CMT4C) is a common type of recessive neuropathy caused by genetic variants in a specific gene.
- A study of 700 unrelated Russian patients found 10 cases of CMT4C, indicating a prevalence of 2.5% among those with demyelinating neuropathy.
- Researchers identified 4 new and 9 previously known genetic variants related to CMT4C, with one variant (p.Arg954*) appearing in about 30% of the patients, showing no major variant accumulation overall.
Article Abstract
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 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 duplication is estimated at 2.5%, significantly differing from observations in European populations. In total, 4 novel and 9 previously reported variants in the 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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11187259 | PMC |
| http://dx.doi.org/10.3389/fgene.2024.1381915 | DOI Listing |
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