Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1

• Published in: Human heredity Vol. 89; no. 1; pp. 52 - 59
• Main Authors: Zhang, Lulu, Zhang, Yi, Han, Chunru, Jiang, Juean, Jiang, Jianhua, Cai, Xiuying, Yu, Liqiang, Qi, Huan, Fang, Qi, Ding, Dongxue
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland 05.06.2024
• Subjects: Research Article; Limb-girdle muscular dystrophy recessive 1; CAPN3; Muscle weakness; Novel mutations; Splice mutation
• ISSN: 0001-5652; 1423-0062; 1423-0062
• DOI: 10.1159/000539521

Abstract Introduction: Recessive mutations in the CAPN3 gene can lead to limb-girdle muscular dystrophy recessive 1 (LGMD R1). Targeted next-generation sequencing facilitates the discovery of new mutations linked with disease, owing to its ability to selectively enrich specific genomic regions. Methods: We performed targeted next-generation sequencing of all exons of the CAPN3 gene in 4 patients with sporadic limb-girdle muscular dystrophy (LGMD) and further analyzed the effects of the novel identified variant using various software tools. Results: We found 5 variants in CAPN3 gene in 4 patients, c.82_83insC (insertion mutation) and c.1115+2T>C (splicing mutation) are reported for the first time in CAPN3 (NM_000070.2). The bioinformatics analysis indicated that these two novel variants affected CAPN3 transcription as well as translation. Discussion: Our findings reveal previously unreported splicing mutation and insertion mutation in CAPN3 gene, further expanding the pathogenic gene profile of LGMD.