{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T11:47:04Z","timestamp":1793360824436,"version":"4.5.0"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,4,17]],"date-time":"2022-04-17T00:00:00Z","timestamp":1650153600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81900722"],"award-info":[{"award-number":["81900722"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82170910"],"award-info":[{"award-number":["82170910"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mosaic variegated aneuploidy (MVA) syndrome is a rare, autosomal recessive genetic disease. Here, we report an ultra\u2010rare case of MVA syndrome associated with a <jats:italic>CEP57<\/jats:italic> variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We retrospectively analyzed the clinical data of a 9\u2010year\u2010old female patient and surveyed her family members. Whole\u2010exome sequencing and karyotype analysis were performed; suspected mutations were verified using Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient presented with intrauterine growth restriction, short stature, microcephaly, facial dysmorphism, brachydactyly, and small teeth, and she showed unsatisfactory response to GH replacement therapy. Laboratory tests revealed high insulin\u2010like growth factor\u20101 levels. Karyotype analysis of the peripheral blood showed mosaic variegated aneuploidies. Whole\u2010exome and Sanger sequencing revealed a novel homozygous nonsense variant, NM_014679.4: c.312\u2009T\u2009&gt;\u2009G, in <jats:italic>CEP57<\/jats:italic> that leads to translation termination (p.Tyr104*). The parents were heterozygous carriers of the identified variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study presents an ultra\u2010rare case of <jats:italic>CEP57\u2010<\/jats:italic>driven MVA syndrome, identifying a novel homozygous nonsense variant of <jats:italic>CEP57<\/jats:italic> (p.Tyr104*). Our findings enrich the <jats:italic>CEP57<\/jats:italic> mutational spectrum and emphasize the importance of genetic testing in patients with microcephaly and short stature. Furthermore, we conclude that growth hormone treatment is ineffective in such patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1951","type":"journal-article","created":{"date-parts":[[2022,4,18]],"date-time":"2022-04-18T06:55:04Z","timestamp":1650264904000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A novel <i>CEP57<\/i> variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0828-3036","authenticated-orcid":false,"given":"Biyun","family":"Feng","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University  Shanghai China"},{"name":"Center for Brain Science Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoying","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University  Shanghai China"},{"name":"Center for Brain Science Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8115-982X","authenticated-orcid":false,"given":"Qianwen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University  Shanghai China"},{"name":"Center for Brain Science Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University  Shanghai 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