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BRIEF RESEARCH REPORT article

Front. Neurol.
Sec. Neurogenetics
Volume 15 - 2024 | doi: 10.3389/fneur.2024.1495711
This article is part of the Research Topic Genetics in Rare Neurological Diseases: From Discovery to Targeted Treatment View all 11 articles

A novel SBF1 missense mutation causes autosomal dominant Charcot-Marie-Tooth disease type 4B3

Provisionally accepted
Huaqi Liu Huaqi Liu *Jing Dong Jing Dong *Zhe Xie Zhe Xie *Li Yu Li Yu *
  • Zhongnan Hospital, Wuhan University, Wuhan, China

The final, formatted version of the article will be published soon.

    We present a case of autosomal dominant Charcot-Marie-Tooth disease type 4B3 (CMT4B3) in a family caused by a novel SBF1 missense mutation.Methods: Two patients, a mother and daughter, were recruited from our hospital. Both exhibited early-onset symptoms, including distal muscle atrophy of the limbs, without cranial nerve involvement. Electromyography was performed to assess nerve amplitudes and conduction velocities. Whole-exome sequencing (WES) and Sanger sequencing were performed to identify genetic mutations.Results: Electromyography revealed a significant decline in nerve amplitudes, while the nerve conduction velocities (NCVs) remained normal in the extremities. Sequencing identified a novel missense mutation (c.1398C>A, p.H466Q) in exon 13 of the SET binding factor 1 (SBF1) gene in both patients, indicating an autosomal dominant inheritance pattern.Discussion: Pathogenicity and protein predictions suggest that the myotubularin-related protein 5 (MTMR5), encoded by the mutated SBF1, may possess an altered structure, resulting in disease. These findings will help expand the phenotypic and genetic spectrum of CMT4B3.

    Keywords: CMT4B3, SBF1, MTMR5, autosomal dominant, gene mutation

    Received: 13 Sep 2024; Accepted: 13 Nov 2024.

    Copyright: © 2024 Liu, Dong, Xie and Yu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Huaqi Liu, Zhongnan Hospital, Wuhan University, Wuhan, China
    Jing Dong, Zhongnan Hospital, Wuhan University, Wuhan, China
    Zhe Xie, Zhongnan Hospital, Wuhan University, Wuhan, China
    Li Yu, Zhongnan Hospital, Wuhan University, Wuhan, China

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