• Internal medicine · Oct 2023

    Case Reports

    Charcot-Marie-Tooth Disease with A Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects.

    • Ichiro Nozaki, Akihiro Hashiguchi, Hiroshi Takashima, Yoko Yamashita, Tomomi Higashide, Kazuo Iwasa, and Kenjiro Ono.
    • Department of Neurology, Kanazawa University Graduate School of Medical Sciences, Japan.
    • Intern. Med. 2023 Oct 15; 62 (20): 303330363033-3036.

    AbstractPathogenic variants in Gap Junction Protein Beta 1 (GJB1) cause X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMTX1), which is a common hereditary motor and sensory neuropathy. A 45-year-old man presented with progressive muscle weakness, atrophy, sensory disturbance of all limbs from childhood, and visual field defects in both eyes at 40 years old. A segregation analysis revealed a novel variant, c.173C>A (p.P58H), in the GJB1 gene. Patients with variants at codon 58 in GJB1 showed clinically varied phenotypes, ranging from demyelinating neuropathy to cerebellar ataxia. This patient may represent one of the various clinical phenotypes of GJB1 variants.

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