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
This case expands the phenotypic and genetic spectrum of APBD, particularly by documenting its occurrence in non-Ashkenazi Jewish patients. Additionally, the identification of atypical genetic alterations, such as the large deletion in <i>GBE</i>1, provides new insights into the genetic basis of the disease and may aid in understanding its broader clinical manifestations. These findings suggest the need for a broader genetic screening approach in APBD diagnosis, especially in diverse populations.
Authors
- Juan Zhu (ORCID: https://orcid.org/0000-0003-2151-5487)
- Xi-Kui Zhang
- Mei-zhu Gao (ORCID: https://orcid.org/0000-0001-8321-0158)
- Jie-wei Luo (ORCID: https://orcid.org/0000-0003-4271-4848)
- Li Chen (ORCID: https://orcid.org/0000-0001-7670-8062)
- Li Zhang (ORCID: https://orcid.org/0000-0002-8433-2402)
- Yunfei Li (ORCID: https://orcid.org/0000-0003-2582-8667)
- Hongping Yu (ORCID: https://orcid.org/0000-0001-9668-5929)
- Chen Qian (ORCID: https://orcid.org/0000-0002-8761-5563)
- Lijun Xie (ORCID: https://orcid.org/0000-0001-9016-7143)
- Ziyan Xu (ORCID: https://orcid.org/0000-0003-3790-2297)
- Yi-Wu Zhang
- Xiaoxia Han
- Jing Zou (ORCID: https://orcid.org/0000-0002-4080-0032)
Institutions
- Fujian University of Traditional Chinese Medicine (CN)
- Fujian Medical University (CN)
- Fujian Provincial Hospital (CN)
- Fuzhou University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-03-19
- DOI
- https://doi.org/10.3389/fgene.2025.1514610
- Citations
- 1
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 1.67