{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T20:52:56Z","timestamp":1761598376275,"version":"3.41.2"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,10,15]],"date-time":"2021-10-15T00:00:00Z","timestamp":1634256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81970403"],"award-info":[{"award-number":["81970403"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2020TQ0363","2020M682598"],"award-info":[{"award-number":["2020TQ0363","2020M682598"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018537","name":"National Science and Technology Major Project","doi-asserted-by":"publisher","award":["2017ZX10103005\u2010006"],"award-info":[{"award-number":["2017ZX10103005\u2010006"]}],"id":[{"id":"10.13039\/501100018537","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Gene Medicine"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hypertrophic cardiomyopathy (HCM) is a hereditary disease manifested by a thickened ventricular wall. Cysteine and glycine\u2010rich protein 3 (<jats:italic>CSRP3<\/jats:italic>), the gene encoding muscle LIM protein, is important for initiating hypertrophic gene expression. The mutation of <jats:italic>CSRP3<\/jats:italic> causes dilated cardiomyopathy or HCM.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In the present study, we enrolled a Chinese family with HCM across three generations. Whole\u2010exome sequencing (WES) was performed in the proband to detect the candidate genes of the family. Sanger sequencing was performed for mutational analysis and confirmation of cosegregation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Through histopathological and imaging examinations, an obvious left ventricular hypertrophy was found in the proband. After WES data filtering, bioinformatic prediction and co\u2010segregation analysis, a nonsense mutation (NM_003476.5:c.364C&gt;T; NP_003467.1:p.Arg122*) of <jats:italic>CSRP3<\/jats:italic> was identified in this family. This variant was predicted to be disease\u2010causing and resulted in a truncated protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This is the first HCM family case of <jats:italic>CSRP3<\/jats:italic> (p.Arg122*) variation in Asia. The finding here not only contributes to the genetic diagnosis and counseling of the family, but also provides a new case with detailed phenotypes that may be caused by the <jats:italic>CSRP3<\/jats:italic> variant.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jgm.3390","type":"journal-article","created":{"date-parts":[[2021,9,24]],"date-time":"2021-09-24T02:19:38Z","timestamp":1632449978000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family"],"prefix":"10.1002","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9051-4483","authenticated-orcid":false,"given":"Hao","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Nephrology Xiangya Hospital Central South University  Changsha China"},{"name":"Department of Cell Biology, School of Life Sciences Central South University  Changsha China"},{"name":"Hunan 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