{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T15:52:17Z","timestamp":1789487537732,"version":"build-2803163510"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:00:00Z","timestamp":1789430400000},"content-version":"vor","delay-in-days":257,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cardiology Research and Practice"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Restrictive cardiomyopathy (RCM) is a rare, severe cardiac disease with a heterogeneous genetic basis. Both genetic and nongenetic factors contribute to RCM pathogenesis. Identifying the underlying molecular causes is important for diagnosis and family screening. In this study, we investigated the genetic basis of RCM in a 52\u2010year\u2010old woman with a family history of RCM and heart disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Genetic predisposition was evaluated using whole\u2010exome sequencing (WES). Candidate variants identified in the proband were validated by Sanger sequencing and interpreted using bioinformatics tools and the American College of Medical Genetics and Genomics\/Association for Molecular Pathology (ACMG\/AMP) guidelines.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Two heterozygous missense variants were identified: a novel\n                      <jats:italic>DES<\/jats:italic>\n                      c.262C\u2009&gt;\u2009A (p.Leu88Met) variant and a previously reported\n                      <jats:italic>MYH7<\/jats:italic>\n                      c.2360G\u2009&gt;\u2009A (p.Arg787His) variant. The\n                      <jats:italic>DES<\/jats:italic>\n                      variant was absent from population databases and was classified as a variant of uncertain significance, whereas the\n                      <jats:italic>MYH7<\/jats:italic>\n                      variant has been reported in the cardiomyopathy spectrum, primarily in hypertrophic cardiomyopathy. Although both variants may be relevant to the participant\u2019s phenotype, their contribution remains uncertain without segregation and functional studies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      These findings expand the spectrum of\n                      <jats:italic>DES<\/jats:italic>\n                      and\n                      <jats:italic>MYH7<\/jats:italic>\n                      variants observed in cardiomyopathy and highlight the need for further segregation and functional analyses to clarify their clinical significance in RCM. Identifying the genetic basis of RCM in this family may improve screening strategies and guide clinical management.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/crp\/6363745","type":"journal-article","created":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T14:48:11Z","timestamp":1789483691000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Potential Contribution of\n                    <i>DES<\/i>\n                    (p.Leu88Met) and\n                    <i>MYH7<\/i>\n                    (p.Arg787His) Variants to Familial Restrictive Cardiomyopathy"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2840-5996","authenticated-orcid":false,"given":"Mahrokh","family":"Bagherimoghaddam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3499-044X","authenticated-orcid":false,"given":"Samira","family":"Kalayinia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir Farjam","family":"Fazelifar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-0852-9055","authenticated-orcid":false,"given":"Masomeh","family":"Jalilian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3129-0077","authenticated-orcid":false,"given":"Sepideh","family":"Taghavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2532-455X","authenticated-orcid":false,"given":"Zahra","family":"Khajali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5854-2393","authenticated-orcid":false,"given":"Majid","family":"Maleki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Amin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7218-9565","authenticated-orcid":false,"given":"Mahshid","family":"Malakootian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,15]]},"reference":[{"key":"e_1_2_14_1_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpheart.00562.2021"},{"key":"e_1_2_14_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehm342"},{"key":"e_1_2_14_3_2","volume-title":"Restrictive Cardiomyopathy","author":"Brown K. 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