ORIGINAL RESEARCH article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1664086
This article is part of the Research TopicGenetics and Mechanisms of Neurodevelopmental DisordersView all 7 articles
Uncovering Compound Heterozygous DYSF Variants in a Chinese Family Affected by Limb-Girdle Muscular Dystrophy Type 2B
Provisionally accepted
- 1School of Clinical Medicine, Ningxia Medical University, Yinchuan, China
- 2General Hospital of Ningxia Medical University, Yinchuan, China
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This case concerns a Chinese female patient who was referred to our clinic having complained of weakness in her lower limbs. Following a series of diagnostic procedures, including electrophysiology, muscle biopsy and genetic analysis, the patient was diagnosed with limb-girdle muscular dystrophy type 2B (LGMD2B). Genetic testing revealed compound heterozygous mutations in the DYSF gene, specifically the missense mutation c.6313G>A (p.Ala2105Thr). Another variant, c.4444del (p.Glu1482Serfs*43), is a frameshift mutation. This case provides further confirmation of the LGMD2B diagnosis. It also identifies novel compound heterozygous DYSF mutations. These findings have significant implications for the diagnosis and research of genetic diseases, the management of at-risk individuals and the development of new therapies.
Keywords: variants, DYSF, Dysferlin, limb-girdle recessive muscular dystrophy 2, Limb-girdle muscular dystrophy type 2B
Received: 11 Jul 2025; Accepted: 09 Sep 2025.
Copyright: © 2025 Jin Lan, Zhou, Ji, Ma, Zhu, Yang, Dong and Yang. 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: Ping Yang, General Hospital of Ningxia Medical University, Yinchuan, China
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