BRIEF RESEARCH REPORT article
Front. Neurol.
Sec. Neurogenetics
Retropseudogene insertion generated through retrotransposition in the ATP7A gene results in premature stop codons and a case of Menkes disease
Provisionally accepted
- 1First Affiliated Hospital of Harbin Medical University, Harbin, China
- 2Shanghai Nyuen Biotechnology Co Ltd, Shanghai, China
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Abstract: Pathogenic variants in the ATP7A gene, which encodes a transmembrane copper-transporting P-type ATPase, underlie Menkes disease, a rare X-linked recessive disorder of copper metabolism. We report a 3-year-old boy presenting with progressive neurodegeneration, refractory epilepsy, connective tissue abnormalities, and characteristic kinky hair. Whole-exome sequencing and confirmatory analysis identified a retropseudogene insertion (~500 bp) in exon 3 of ATP7A, displaying the hallmarks of target-primed reverse transcription. PCR and RNA-seq revealed a marked reduction in ATP7A transcript levels in the patient. This case underscores the diagnostic relevance of retropseudogene insertions in disease genes and highlights their role in human pathology.
Keywords: Menkes disease, ATP7A, Retropseudogene, retrotransposon, Premature termination codon
Received: 07 Aug 2025; Accepted: 06 Nov 2025.
Copyright: © 2025 Kou, Ren, Xing, Chen and Xu. 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:
Lijuan Chen, chenlijuan@nhwa-group.com
Xiangping Xu, xxp562005@163.com
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