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CASE REPORT article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1421122

A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification

Provisionally accepted
Xiaoxue Shi Xiaoxue Shi Xuelin Qi Xuelin Qi *Jinhua Zheng Jinhua Zheng Jianjun Ma Jianjun Ma *Dongsheng Li Dongsheng Li *
  • Henan Provincial People's Hospital, Zhengzhou, China

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

    Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of the ABCD1 gene (c.1256T>G (p.Val419Gly)) were retrospectively analyzed. Furthermore, we constructed wild-type and mutant vectors of the ABCD1 (NM0000334) gene to validate the effect of this mutation on the expression of the ABCD1 gene and protein and to explore the mechanism of X-linked adrenoleukodystrophy occurrence and development to identify therapeutic targets for clinical treatment.

    Keywords: ABCD1 gene, Adrenomyeloneuropathy (AMN), Point Mutation, genetic analysis, Functional verification

    Received: 22 Apr 2024; Accepted: 30 Aug 2024.

    Copyright: © 2024 Shi, Qi, Zheng, Ma and Li. 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:
    Xuelin Qi, Henan Provincial People's Hospital, Zhengzhou, China
    Jianjun Ma, Henan Provincial People's Hospital, Zhengzhou, China
    Dongsheng Li, Henan Provincial People's Hospital, Zhengzhou, China

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