Limb-girdle muscular dystrophy type 2A with normal Calpain-3 expression caused by a homozygous mutation in CAPN3 gene: one case report

doi:10.3969/j.issn.1672-6731.2025.11.010

Abstract

Key words: Muscular dystrophies, limb-girdle, Calpain, Genes, Mutation, Case reports

YANG Yu-fang, LIANG Tao, SHI Chao, YAN Lin-lin, XU Zu-cai, LUO Zhong. Limb-girdle muscular dystrophy type 2A with normal Calpain-3 expression caused by a homozygous mutation in CAPN3 gene: one case report[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2025, 25(11): 1040-1045.

杨羽芳, 梁涛, 施超, 鄢琳琳, 徐祖才, 罗忠. CAPN3基因纯合突变致Calpain-3蛋白表达正常的肢带型肌营养不良2A型一例[J]. 中国现代神经疾病杂志, 2025, 25(11): 1040-1045.

/ / Recommend / Download Citations

URL: https://journal11.magtechjournal.com/cjcnn/EN/10.3969/j.issn.1672-6731.2025.11.010

https://journal11.magtechjournal.com/cjcnn/EN/Y2025/V25/I11/1040

References

[1] Lin F, Yang K, Lin X, Jin M, Chen L, Zheng FZ, Qiu LL, Ye ZX, Chen HZ, Lin MT, Wang N, Wang ZQ. Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients[J]. Orphanet J Rare Dis, 2023, 18:356.
[2] Banerjee S, Radotra BD, Luthra-Guptasarma M, Goyal MK. Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1[J]. Orphanet J Rare Dis, 2024, 19:140.
[3] Zhong H, Zheng Y, Zhao Z, Lin P, Xi J, Zhu W, Lin J, Lu J, Yu M, Zhang W, Lv H, Yan C, Hu J, Wang Z, Lu J, Zhao C, Yuan Y, Luo S. Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1:from a Chinese multicentre analysis to a worldwide perspective[J]. J Med Genet, 2021, 58:729-736.
[4] Feng W, Cao Y, Ren R, Yang X, Cao C, Jiang H, Du G. Case report:a novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A[J]. Front Genet, 2024, 15:1410727.
[5] Mao B, Yang J, Zhao X, Jia X, Shi X, Zhao L, Banerjee S, Zhang L, Ma X. Identification and functional characterization of a novel heterozygous splice site mutation in the calpain 3 gene causes rare autosomal dominant limb girdle muscular dystrophy[J]. Exp Ther Med, 2024, 27:97.
[6] Cao X, Zeng L, Lu Z, Fan J, Tan S, Zhang M, Yin Z. A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene[J]. Front Neurol, 2023, 14:1213090.
[7] Fanin M, Nascimbeni AC, Fulizio L, Trevisan CP, Meznaric-Petrusa M, Angelini C. Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression[J]. Am J Pathol, 2003, 163:1929-1936.
[8] Bardakov SN, Sorochanu I, Mkrtchyan LA, Slesarenko YS, Tsargush VA, Limaev IS, Isaev AA, Yakovlev IA, Deev RV. Calpainopathy (limb-girdle muscular dystrophy type R1):clinical features, diagnostic approaches, and biotechnological treatment methods[J]. J Neuromuscul Dis, 2025, 12:594-618.
[9] Massucco S, Fossa P, Fiorillo C, Faedo E, Gemelli C, Barresi R, Ripolone M, Patrone S, Gaudio A, Mandich P, Gotta F, Baratto S, Traverso M, Pisciotta L, Zaottini F, Camera M, Scarsi E, Grandis M. Case report:a single novel calpain 3 gene variant associated with mild myopathy[J]. Front Genet, 2024, 15:1437859.
[10] Macias A, Fichna JP, Topolewska M, Rȩdowicz MJ, Kaminska AM, Kostera-Pruszczyk A. Targeted next-generation sequencing reveals mutations in non-coding regions and potential regulatory sequences of calpain-3 gene in Polish limb-girdle muscular dystrophy patients[J]. Front Neurosci, 2021, 15:692482.
[11] Chen L, Tang F, Gao H, Zhang X, Li X, Xiao D. CAPN3:a muscle specific calpain with an important role in the pathogenesis of diseases (review)[J]. Int J Mol Med, 2021, 48:203.
[12] Meinke P, Kerr ARW, Czapiewski R, de Las Heras JI, Dixon CR, Harris E, Kölbel H, Muntoni F, Schara U, Straub V, Schoser B, Wehnert M, Schirmer EC. A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism[J]. EBioMedicine, 2020, 51:102587.
[13] Yu M, Zheng Y, Jin S, Gang Q, Wang Q, Yu P, Lv H, Zhang W, Yuan Y, Wang Z. Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing[J]. PLoS One, 2017, 12:e0175343.
[14] de Morrée A, Lutje Hulsik D, Impagliazzo A, van Haagen HH, de Galan P, van Remoortere A, 't Hoen PA, van Ommen GB, Frants RR, van der Maarel SM. Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling[J]. PLoS One, 2010, 5:e11940.
[15] Charlton R, Henderson M, Richards J, Hudson J, Straub V, Bushby K, Barresi R. Immunohistochemical analysis of calpain 3:advantages and limitations in diagnosing LGMD2A[J]. Neuromuscul Disord, 2009, 19:449-457.
[16] Oflazer PS, Gundesli H, Zorludemir S, Sabuncu T, Dincer P. Eosinophilic myositis in calpainopathy:could immunosuppression of the eosinophilic myositis alter the early natural course of the dystrophic disease[J]? Neuromuscul Disord, 2009, 19:261-263.
[17] Huang Y, de Morrée A, van Remoortere A, Bushby K, Frants RR, den Dunnen JT, van der Maarel SM. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle[J]. Hum Mol Genet, 2008, 17:1855-1866.
[18] Groen EJ, Charlton R, Barresi R, Anderson LV, Eagle M, Hudson J, Koref MS, Straub V, Bushby KM. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A[J]. Brain, 2007, 130(Pt 12):3237-3249.
[19] Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17:405-424.
[20] Alharbi N, Shosha E, Murad H, Alhomud I, Alshehri A, Almuhaizea M, Cupler E, Al-Hindi H, Monies D, Bohlega S. Clinical and genetic features of Calpainopathies in Saudi Arabia:a descriptive cross-sectional study[J]. Eur Rev Med Pharmacol Sci, 2021, 25:4941-4952.

Please choose a citation manager

Content to export