ArticleHuman mutation2026
Pathogenic Mechanisms of Two Novel Variants in the GJB1 Gene.
Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors.
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Abstract
Background and Aims: Charcot-Marie-Tooth disease X-linked Type 1 (CMTX1), caused by Methods: We retrospectively analyzed eight male patients, evaluating clinical signs, electrophysiology, and sural nerve biopsies. Pathogenicity of novel variants was assessed via bioinformatics, ChimeraX molecular modeling, and HeLa cell models focusing on protein localization and channel function (scratch-loading/DAPI assays). Results: Patients showed typical distal muscle atrophy and intermediate conduction velocities; three exhibited rare CNS white matter abnormalities. Two novel variants were identified: c.130dupT and c.124A > G. c.130dupT led to a complete "loss of expression" of the full-length Cx32 protein. c.124A > G resulted in significant cytoplasmic protein retention ( Interpretation: This study identifies two previously unreported
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