{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T14:37:25Z","timestamp":1762353445813,"version":"3.41.2"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T00:00:00Z","timestamp":1702339200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2016YFC1000307"],"award-info":[{"award-number":["2016YFC1000307"]}],"id":[{"id":"10.13039\/501100012166","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>Primrose syndrome is an autosomal dominant disorder characterized by craniofacial dysmorphism, mental retardation, developmental delay, progressive muscle atrophy and calcification of the earlobe due to a mutation in the <jats:italic>ZBTB20<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We reported a case of a Chinese boy with clinical symptoms resembling Primrose Syndrome, and performed genetic etiology analysis of the proband's family through Trio whole exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Result<\/jats:title><jats:p>A novel missense variant c.1927T&gt;A(p.F643I) in exon 14 of the <jats:italic>ZBTB20<\/jats:italic> (NM_001348803) was identified in the proband. This is the first report case of primrose syndrome in China, and our case extends the variant spectrum of <jats:italic>ZBTB20<\/jats:italic> and further strengthens the understanding of primrose syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>However, there are no formal clinical guidelines for the management of this disease, and research on treatment and prognosis remains a challenge and focus in future.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2304","type":"journal-article","created":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T06:29:45Z","timestamp":1702448985000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel de novo mutation in <i>ZBTB20<\/i> in a Chinese Primrose syndrome family and a review of the 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