{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T09:47:00Z","timestamp":1773049620205,"version":"3.50.1"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T00:00:00Z","timestamp":1630886400000},"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><jats:bold>Introduction:<\/jats:bold> Congenital muscular dystrophy (CMD) is a group of early-onset disorders with clinical and genetic heterogeneity. Patients always present with muscle weakness typically from birth to early infancy, delay or arrest of gross motor development, and joint and\/or spinal rigidity. There are various genes related to the development of CMD. Among them, mutations in integrin alpha 7 (<jats:italic>ITGA7<\/jats:italic>) is a rare subtype. The identification of disease-causing genes facilitates the diagnosis and treatment of CMD.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> We screened <jats:italic>ITGA7<\/jats:italic> mutations in four people by whole exome sequencing and targeted sequencing from a consanguineous family. We then carried out electromyography and neuroelectrophysiological examinations to clarify a clinical picture of the patient diagnosed with CMD.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> We report a Chinese boy diagnosed with CMD who carries a homozygous variant (c.1088dupG, p.H364Sfs<jats:sup>*<\/jats:sup>15) of the <jats:italic>ITGA7<\/jats:italic> gene. According to the genotype analysis of his family members, this is an autosomal recessive inheritance.<\/jats:p><jats:p><jats:bold>Conclusions:<\/jats:bold> Our case further shows that <jats:italic>ITGA7<\/jats:italic> mutation is related to CMD. Genetic counseling and multidisciplinary management of CMD play an important role in helping patients and their family. Further elucidation of the significant clinical and genetic heterogeneity, therapeutic targets, and the clinical care for patients remains our challenge for the future.<\/jats:p>","DOI":"10.3389\/fgene.2021.706823","type":"journal-article","created":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T19:29:46Z","timestamp":1630956586000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["Case Report: A Boy From a Consanguineous Family Diagnosed With Congenital Muscular Dystrophy Caused by Integrin Alpha 7 (ITGA7) Mutation"],"prefix":"10.3389","volume":"12","author":[{"given":"Wenqing","family":"Xia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhumei","family":"Ni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zheng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongfei","family":"Sang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huifang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenzhen","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Congguo","family":"Yin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinyu","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingfei","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoguang","family":"Lei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,9,6]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1031","DOI":"10.1016\/j.nmd.2018.09.006","article-title":"The 2019 version of the gene table of neuromuscular disorders (nuclear genome)","volume":"28","author":"Bonne","year":"2018","journal-title":"Neuromuscul. Disord"},{"key":"B2","doi-asserted-by":"publisher","first-page":"44398","DOI":"10.1038\/srep44398","article-title":"Extracellular matrix and alpha5beta1 integrin signaling control the maintenance of bone formation capacity by human adipose-derived stromal cells","volume":"7","author":"Di Maggio","year":"2017","journal-title":"Sci. Rep"},{"key":"B3","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1186\/1750-1172-8-91","article-title":"Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy","volume":"8","author":"Esposito","year":"2013","journal-title":"Orphanet. J. Rare Dis"},{"key":"B4","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1093\/abbs\/gmz144","article-title":"Downregulating integrin subunit alpha 7 (ITGA7) promotes proliferation, invasion, and migration of papillary thyroid carcinoma cells through regulating epithelial-to-mesenchymal transition","volume":"52","author":"Guan","year":"2020","journal-title":"Acta Biochim. Biophys. Sin. (Shanghai)"},{"key":"B5","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1038\/ng0598-94","article-title":"Mutations in the integrin alpha7 gene cause congenital myopathy","volume":"19","author":"Hayashi","year":"1998","journal-title":"Nat. Genet"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1528","DOI":"10.1038\/gim.2018.33","article-title":"Phenotypic expansion illuminates multilocus pathogenic variation","volume":"20","author":"Karaca","year":"2018","journal-title":"Genet. Med"},{"key":"B7","doi-asserted-by":"publisher","first-page":"4378","DOI":"10.1093\/hmg\/dds271","article-title":"Dystrophin and utrophin expression require sarcospan: loss of alpha7 integrin exacerbates a newly discovered muscle phenotype in sarcospan-null mice","volume":"21","author":"Marshall","year":"2012","journal-title":"Hum. Mol. Genet"},{"key":"B8","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1016\/j.actbio.2016.04.046","article-title":"Role of integrin alpha7beta1 signaling in myoblast differentiation on aligned polydioxanone scaffolds","volume":"39","author":"McClure","year":"2016","journal-title":"Acta Biomater"},{"key":"B9","doi-asserted-by":"publisher","first-page":"e143469","DOI":"10.1172\/jci.insight.143469","article-title":"Activation of skeletal muscle-resident glial cells upon nerve injury","volume":"6","author":"Proietti","year":"2021","journal-title":"JCI Insight"},{"key":"B10","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1016\/j.ajpath.2011.12.019","article-title":"Laminin-111 protein therapy reduces muscle pathology and improves viability of a mouse model of merosin-deficient congenital muscular dystrophy","volume":"180","author":"Rooney","year":"2012","journal-title":"Am. J. Pathol"},{"key":"B11","doi-asserted-by":"publisher","first-page":"706823","DOI":"10.3389\/fgene.2021.706823","article-title":"Case report: a boy from a consanguineous family diagnosed with congenital muscular dystrophy caused by integrin alpha 7 (ITGA7) mutation","volume":"12","author":"Xia","year":"2021","journal-title":"Front. Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"e0175343","DOI":"10.1371\/journal.pone.0175343","article-title":"Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing","volume":"12","author":"Yu","year":"2017","journal-title":"PLoS ONE"},{"key":"B13","doi-asserted-by":"publisher","first-page":"1845926","DOI":"10.1155\/2019\/1845926","article-title":"Stepwise adipogenesis of decellularized cellular extracellular matrix regulates adipose tissue-derived stem cell migration and differentiation","volume":"2019","author":"Zhang","year":"2019","journal-title":"Stem Cells Int"}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2021.706823\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T19:29:49Z","timestamp":1630956589000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2021.706823\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,6]]},"references-count":13,"alternative-id":["10.3389\/fgene.2021.706823"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2021.706823","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,6]]},"article-number":"706823"}}