{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:00:41Z","timestamp":1790766041841,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T00:00:00Z","timestamp":1699920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003995","name":"Natural Science Foundation of Anhui Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003995","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cornelia de Lange syndrome (CdLS) is mainly characterized by specific facial features, growth retardation, and bone deformities. Seven genes reportedly cause CdLS. Recent research has reported that loss\u2010of\u2010function variants affecting <jats:italic>MAU2<\/jats:italic>, which encodes a regulator of the cohesin complex, can cause CdLS. Thus far, only one <jats:italic>MAU2<\/jats:italic>\u2010CdLS case has been reported worldwide.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We detected a novel variant in <jats:italic>MAU2<\/jats:italic> gene, NM_015329, c.526C&gt;T (p.Arg176Trp) in a Chinese patient with CdLS, constructed a plasmid for in\u00a0vitro transcriptional and protein level analysis, and analyzed the interaction between the MAU2\/NIPBL complex using molecular dynamics (MD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The results showed that the level of the exogenous MAU2 mutant protein was significantly reduced compared with that of the exogenous wild\u2010type protein. However, MD analysis predicted an increased binding free energy between the MAU2 and NIPBL proteins that may impact the structural stability of the complex.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We investigated a MAU2\u2010CdLS case in a Chinese family, which strengthens the association between MAU2 variants and CdLS phenotypes. We therefore propose that MAU2 be included in the CdLS gene screening list.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2318","type":"journal-article","created":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T11:14:25Z","timestamp":1699960465000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel <scp>MAU2<\/scp> gene variant in a Chinese boy"],"prefix":"10.1002","volume":"12","author":[{"given":"Yin","family":"Peng","sequence":"first","affiliation":[{"name":"Department of Nephrology Anhui Provincial Children's Hospital  Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Nephrology Anhui Provincial Children's Hospital  Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Nephrology Anhui Provincial Children's Hospital  Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3833-2919","authenticated-orcid":false,"given":"Fang","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Nephrology Anhui Provincial Children's Hospital  Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,14]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.645"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23115912"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy329"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12499"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.175"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.4349"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1891\/NN\u20102021\u20100011"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.06057"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38279"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30137"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576\u2010018\u20100031\u20100"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.848879"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010genet\u2010102108\u2010134233"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2020.107647"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61174"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33441"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2019.04.010"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12071075"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004153"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2318","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T12:24:08Z","timestamp":1706531048000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,14]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/mgg3.2318"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2318","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,14]]},"assertion":[{"value":"2023-05-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2318"}}