{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:34:26Z","timestamp":1790832866018,"version":"4.1.0"},"reference-count":14,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2022,3,2]],"date-time":"2022-03-02T00:00:00Z","timestamp":1646179200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,3,2]],"date-time":"2022-03-02T00:00:00Z","timestamp":1646179200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Dyggve-Melchior-Clausen syndrome (DMC) is a rare autosomal recessive spondyloepimetaphyseal dysplasia characterized by short stature, microcephaly, intellectual disability, and coarse face. This disorder is caused by pathogenic\/likely pathogenic variants of the &lt;i&gt;DYM&lt;\/i&gt; gene which encodes dymeclin. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; Herein, we report a 60-year-old Japanese man who was born to consanguineous parents. He presented with abdominal distention and rectal prolapse in addition to the common features of DMC. We identified a novel homozygous frameshift variant [c.1670delT, p.(Leu557Argfs*20)] in the &lt;i&gt;DYM&lt;\/i&gt; gene, which introduces a premature stop codon. Histological analysis revealed disarrangement of actin filaments in cultured fibroblasts. &lt;b&gt;&lt;i&gt;Discussion:&lt;\/i&gt;&lt;\/b&gt; To the best of our knowledge, this is the first Japanese case of DMC with a confirmed variant in the &lt;i&gt;DYM&lt;\/i&gt; gene. This report provides more information about the geographic distribution and phenotypic spectrum of DMC. Moreover, it presents a novel &lt;i&gt;DYM&lt;\/i&gt; variant and insights about DMC pathology that may be associated with the disarrangement of actin filaments. <\/jats:p>","DOI":"10.1159\/000521516","type":"journal-article","created":{"date-parts":[[2022,3,2]],"date-time":"2022-03-02T16:28:11Z","timestamp":1646238491000},"page":"1-10","source":"Crossref","is-referenced-by-count":1,"title":["Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient"],"prefix":"10.1159","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4902-5607","authenticated-orcid":false,"given":"Koji","family":"Obara","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Abe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Itaru","family":"Toyoshima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2022,3,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s11832-009-0211-8"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.38982.704931.AE"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/adc.37.195.525"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.4103\/0971-6866.86197"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.12.004"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s11604-021-01206-5"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.pnpbp.2017.08.023"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-010-1298-0"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033829"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0804259105"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.08.012"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32831868ea"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1148\/114.2.415"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286853"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/521516","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/521516","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:40:51Z","timestamp":1745422851000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000521516"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,2]]},"references-count":14,"URL":"https:\/\/doi.org\/10.1159\/000521516","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,2]]}}}