{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T05:31:11Z","timestamp":1786599071332,"version":"build-2736575974"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,6,20]],"date-time":"2023-06-20T00:00:00Z","timestamp":1687219200000},"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>Congenital muscular dystrophy type 1A (CMD1A) is a rare autosomal recessive disorder caused by mutations in the <jats:italic>LAMA2<\/jats:italic> gene. CMD1A is characterized by peripheral hypotonia and muscle weakness from the first months of life, cerebral white matter abnormalities, and elevated creatine phosphokinase (CPK) levels. We describe an 8-year-old girl from Colombia with clinical features compatible with CMD1A, severe scoliosis corrected with surgery, and feeding difficulty corrected with a gastrostomy. Whole-exome sequencing identified two heterozygous variants: a reported nonsense variant (<jats:italic>LAMA2<\/jats:italic> NM_000426.3:c.4198C&amp;gt;T) and a novel likely pathogenic variant (<jats:italic>LAMA2<\/jats:italic> NM_000426.3:c.9227_9243dup). This is the first genetically confirmed case of CMD1A in Colombia and the first report of the c.9227_9243dup variant causing CMD1A.<\/jats:p>","DOI":"10.3389\/fgene.2023.1158350","type":"journal-article","created":{"date-parts":[[2023,6,20]],"date-time":"2023-06-20T10:19:11Z","timestamp":1687256351000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A"],"prefix":"10.3389","volume":"14","author":[{"given":"Natalia","family":"Diaz-Lombana","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Diaz-Ordo\u00f1ez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan David","family":"Gutierrez-Medina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry","family":"Pachajoa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,6,20]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"409","DOI":"10.11144\/javeriana.umed51-4.dmcr","article-title":"Distrofia muscular cong\u00e9nita: Reporte de caso y revisi\u00f3n de la literatura","volume":"51","author":"Acosta Gu\u00edo","year":"2010","journal-title":"Univ. Medica"},{"key":"B2","first-page":"21","article-title":"Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report","volume":"38","author":"Amin","year":"2019","journal-title":"Acta myologica myopathies cardiomyopathies official J. Mediterr. Soc. Myology"},{"key":"B3","doi-asserted-by":"publisher","first-page":"185","DOI":"10.21037\/jss.2016.08.05","article-title":"Duchenne muscular dystrophy: The management of scoliosis","volume":"2","author":"Archer","year":"2016","journal-title":"J. spine Surg. (Hong Kong)"},{"key":"B4","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1016\/j.mcp.2013.11.002","article-title":"High creatine kinase levels and white matter changes: Clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency","volume":"28","author":"Beyt\u00eda","year":"2014","journal-title":"Mol. Cell. probes"},{"key":"B5","doi-asserted-by":"publisher","first-page":"3028145","DOI":"10.1155\/2018\/3028145","article-title":"LAMA2 congenital muscle dystrophy: A novel pathogenic mutation in Bulgarian patient","volume":"2018","author":"Dimova","year":"2018","journal-title":"Case Rep. Genet."},{"key":"B6","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1016\/j.nmd.2010.02.001","article-title":"Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations","volume":"20","author":"Geranmayeh","year":"2010","journal-title":"Neuromuscul. Disord. NMD"},{"key":"B7","doi-asserted-by":"publisher","first-page":"408","DOI":"10.29252\/.22.6.408","article-title":"Novel LAMA2 gene mutations associated with merosin-deficient congenital muscular dystrophy","volume":"22","author":"Hashemi-Gorji","year":"2018","journal-title":"Iran. Biomed. J."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1319","DOI":"10.1212\/wnl.57.7.1319","article-title":"Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: Molecular study","volume":"57","author":"He","year":"2001","journal-title":"Neurology"},{"key":"B9","doi-asserted-by":"publisher","first-page":"111","DOI":"10.4161\/cam.22618","article-title":"Laminin-211 in skeletal muscle function","volume":"7","author":"Holmberg","year":"2013","journal-title":"Cell adhesion Migr."},{"key":"B10","doi-asserted-by":"publisher","first-page":"193","DOI":"10.3892\/br.2017.935","article-title":"Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report","volume":"7","author":"Liang","year":"2017","journal-title":"Biomed. Rep."},{"key":"B11","doi-asserted-by":"publisher","first-page":"113","DOI":"10.2147\/TACG.S187481","article-title":"Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-\u03b12 chain-deficient congenital muscular dystrophy","volume":"12","author":"Nguyen","year":"2019","journal-title":"Appl. Clin. Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1002\/ana.24687","article-title":"Diagnosis and etiology of congenital muscular dystrophy: We are halfway there","volume":"80","author":"O'Grady","year":"2016","journal-title":"Ann. neurology"},{"key":"B13","doi-asserted-by":"publisher","first-page":"1314","DOI":"10.1002\/humu.23599","article-title":"LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-\u03b12 variome and its related phenotypes","volume":"39","author":"Oliveira","year":"2018","journal-title":"Hum. Mutat."},{"key":"B14","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1111\/j.1399-0004.2008.01068.x","article-title":"LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients","volume":"74","author":"Oliveira","year":"2008","journal-title":"Clin. Genet."},{"key":"B15","doi-asserted-by":"publisher","first-page":"i389","DOI":"10.1093\/bioinformatics\/btx272","article-title":"When loss-of-function is loss of function: Assessing mutational signatures and impact of loss-of-function genetic variants","volume":"33","author":"Pagel","year":"2017","journal-title":"Bioinforma. Oxf. Engl."},{"key":"B16","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1136\/adc.80.6.542","article-title":"Feeding problems in merosin deficient congenital muscular dystrophy","volume":"80","author":"Philpot","year":"1999","journal-title":"Archives Dis. Child."},{"key":"B17","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1016\/j.nmd.2019.04.001","article-title":"Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI","volume":"29","author":"Saredi","year":"2019","journal-title":"Neuromuscul. Disord. NMD"},{"key":"B18","doi-asserted-by":"publisher","first-page":"e0172648","DOI":"10.1371\/journal.pone.0172648","article-title":"A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy","volume":"12","author":"Smith","year":"2017","journal-title":"PloS one"},{"key":"B19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/bs.ctm.2015.05.001","article-title":"Integrating activities of laminins that drive basement membrane assembly and function","volume":"76","author":"Yurchenco","year":"2015","journal-title":"Curr. Top. Membr."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2023.1158350\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,20]],"date-time":"2023-06-20T10:19:14Z","timestamp":1687256354000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2023.1158350\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,20]]},"references-count":19,"alternative-id":["10.3389\/fgene.2023.1158350"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2023.1158350","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,20]]},"article-number":"1158350"}}