{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:45:23Z","timestamp":1791049523320,"version":"4.1.0"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T00:00:00Z","timestamp":1723420800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Limb-girdle muscular dystrophy type 2A (LGMD R1 Calpain 3-Related, LGMD2A\/R1), an autosomal recessive disorder, is characterized by progressive muscle weakness with a prominent presentation in the proximal limb girdle muscles. LGMD2A\/R1, which is caused by variants in calcium-activated neutral proteinase 3 (<jats:italic>CAPN3<\/jats:italic>), is the most common. The present study aimed at identifying the clinically significant variants in a Chinese family with LGMD2A\/R1 and exploring the genotype\u2013phenotype correlations. Clinical symptoms, laboratory findings, and physical examinations were obtained. Genomic DNA was extracted from the peripheral blood samples of this family. Whole-exome sequencing (WES) and Sanger sequencing were used to explore and validate the pathogenic genes. In this study, the proband and his sister, who had two identical mutations in the <jats:italic>CAPN3<\/jats:italic> gene sequence, exhibited diverse clinical features, including disease onset and progression. The mutation c.2120 A&amp;gt;G (p. D707G) is pathogenic and has been reported in the Human Gene Mutation Database (HGMD) and the ClinVar database. c.1783-72\u00a0C&amp;gt;G may be a novel pathogenic mutation of LGMD2A\/R1 based on the American College of Medical Genetics (ACMG) guidelines, which widens the gene variant pool in <jats:italic>CAPN3<\/jats:italic> and improves diagnosis and genetic counseling.<\/jats:p>","DOI":"10.3389\/fgene.2024.1410727","type":"journal-article","created":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T04:37:32Z","timestamp":1723437452000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A"],"prefix":"10.3389","volume":"15","author":[{"given":"Wanjun","family":"Feng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanyan","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruolin","family":"Ren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohui","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunyan","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongwei","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ganqin","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,8,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/0960-8966(93)e0006-g","article-title":"Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies","volume":"5","author":"Bushby","year":"1995","journal-title":"Neuromuscul. 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