The final, formatted version of the article will be published soon.
ORIGINAL RESEARCH article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 |
doi: 10.3389/fgene.2025.1514610
Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7
Provisionally accepted
Juan Zhu 1
Hong-Ping Yu 2* Jing Zou 2* Yi-Wu Zhang 3* Xin-Qi Han 3* Zi- Yan Xu 2* Li Chen 2* Qian Chen 2*
Mei Zhu Gao 2 Li-Jun Xie 4* Xi-Kui Zhang 1*
Jie-wei Luo 2* Yun-Fei Li 2*
Li Zhang 2*- 1 Fujian University of Traditional Chinese Medicine, Fuzhou, Fujian Province, China
- 2 Fujian Provincial Hospital, Fuzhou, Fujian Province, China
- 3 Youxi County general Hospital, Sanming, China, sanming, China
- 4 Zhangzhou Traditional Chinese Medicine Hospital, Fuzhou, Fujian Province, China
Adult Polyglucosan Body Disease (APBD) is a rare, autosomal recessive, degenerative disorder that affects both the central and peripheral nervous systems. APBD is caused by homozygous or compound heterozygous variants in the Glycogen Branching Enzyme 1 (GBE1) gene. We report the case of a 57-year-old Chinese male (Ⅱ3) presenting with progressive bladder dysfunction, upper and lower motor neuron impairment, sensory loss, and lower limb weakness, resulting in gait difficulty over a period of four years. In the case assessment, a sister (II5) was identified with the same clinical presentation. Genetic testing revealed that two affected individuals in this family carry compound heterozygous variants in the GBE1 gene: c.466C>T (p.R156C) in exon 4 and a large deletion of exons 3-7. Patients Ⅱ3 and Ⅱ5 are considered to be diagnosed with APBD, with the pathogenic variants co-segregating in the family. This case expands the phenotypic and genetic spectrum of APBD, highlighting its occurrence in non-Ashkenazi Jewish patients and providing new insights into atypical genetic alterations linked to the disease.
Keywords: APBD, Adult Polyglucosan Body Disease, GBE1, Glycogen Storage Disease, neurogenic bladder, autonomic dysfunction
Received: 22 Oct 2024; Accepted: 21 Jan 2025.
Copyright: © 2025 Zhu, Yu, Zou, Zhang, Han, Xu, Chen, Chen, Gao, Xie, Zhang, Luo, Li and Zhang. 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:
Hong-Ping Yu, Fujian Provincial Hospital, Fuzhou, 350001, Fujian Province, China
Jing Zou, Fujian Provincial Hospital, Fuzhou, 350001, Fujian Province, China
Yi-Wu Zhang, Youxi County general Hospital, Sanming, China, sanming, China
Xin-Qi Han, Youxi County general Hospital, Sanming, China, sanming, China
Zi- Yan Xu, Fujian Provincial Hospital, Fuzhou, 350001, Fujian Province, China
Li Chen, Fujian Provincial Hospital, Fuzhou, 350001, Fujian Province, China
Qian Chen, Fujian Provincial Hospital, Fuzhou, 350001, Fujian Province, China
Li-Jun Xie, Zhangzhou Traditional Chinese Medicine Hospital, Fuzhou, Fujian Province, China
Xi-Kui Zhang, Fujian University of Traditional Chinese Medicine, Fuzhou, 350122, Fujian Province, China
Jie-wei Luo, Fujian Provincial Hospital, Fuzhou, 350001, Fujian Province, China
Yun-Fei Li, Fujian Provincial Hospital, Fuzhou, 350001, Fujian Province, China
Li Zhang, Fujian Provincial Hospital, Fuzhou, 350001, Fujian Province, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.