{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:07:26Z","timestamp":1777727246992,"version":"3.51.4"},"reference-count":26,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"the National Key Research and Development Project of China","award":["2018YFC1002203"],"award-info":[{"award-number":["2018YFC1002203"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:p>Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive inherited disorder that is caused by the SMARCAL1 mutation. The phenotype can vary from mild to severe on the basis of the patient\u2019s age at onset. Herein, we report the case of a 14-year-old Chinese boy who presented with short stature, focal segmental glomerulosclerosis (FSGS), and facial dysmorphism. Genetic analysis revealed two compound heterozygous missense mutations, including a well-known mutation (c.1933C&gt;T, p.R645C) and a novel mutation (c.2479G&gt;A, p.V827M) in the SMARCAL1 gene, which were inherited from his parents. In silico analyses showed that the c.2479G&gt;A (p.V827M) variant affects a highly conserved residue within the ATPase catalytic domain. Finally, we established the diagnosis of mild SIOD and treated the patient with diuretics and angiotensin receptor blockers. This report expands the mutational spectrum of SMARCAL1 and reinforces the importance of a detailed clinical evaluation, molecular detection, and appropriate genetic counseling.<\/jats:p>","DOI":"10.1177\/03000605211010644","type":"journal-article","created":{"date-parts":[[2021,4,26]],"date-time":"2021-04-26T14:15:17Z","timestamp":1619446517000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel compound heterozygous variant in\n                    <i>SMARCAL1<\/i>\n                    leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing"],"prefix":"10.1177","volume":"49","author":[{"given":"Li","family":"Wang","sequence":"first","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Erqi District, 1 Jianshe East Road, Zhengzhou, P. R. China"},{"name":"Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Erqi District, 1 Jianshe East Road, Zhengzhou, P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingjing","family":"Li","sequence":"additional","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Erqi District, 1 Jianshe East Road, Zhengzhou, P. R. China"},{"name":"Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Erqi District, 1 Jianshe East Road, Zhengzhou, P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ge","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, The First Affiliated Hospital of Zhengzhou University, Erqi District, 1 Jianshe East Road, Zhengzhou, P. R. China"},{"name":"Research Institute of Nephrology, Zhengzhou University, Erqi District, 1 Jianshe East Road, Zhengzhou, P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1241-5206","authenticated-orcid":false,"given":"Xiangdong","family":"Kong","sequence":"additional","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Erqi District, 1 Jianshe East Road, Zhengzhou, P. R. China"},{"name":"Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Erqi District, 1 Jianshe East Road, Zhengzhou, P. R. 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