{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:00Z","timestamp":1753869720829,"version":"3.41.2"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T00:00:00Z","timestamp":1744070400000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The <jats:italic>ZNF526<\/jats:italic> gene encodes a ubiquitously expressed Kruppel\u2010type zinc finger protein crucial in transcriptional regulation. Recent studies suggest that biallelic pathogenic variants in <jats:italic>ZNF526<\/jats:italic> may lead to Dentici\u2010Novelli neurodevelopmental syndrome, characterized by microcephaly, developmental delay, epilepsy, and ocular anomalies. To date, phenotypic details have been reported for only six patients with <jats:italic>ZNF526<\/jats:italic> variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This study gathered clinical information and genetic data from a child with neurodevelopmental disorders. A three\u2010dimensional protein model was employed to predict variant effects on protein structure. A literature review was conducted to compare this case with previously reported cases, analyzing clinical features and genetic findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband, a 7\u2010month\u2010old girl, exhibited developmental delay, microcephaly, limb hypotonia, abnormal brain imaging, and seizures. Chromosomal karyotype analysis and copy number variation analyses were normal. Whole exome sequencing revealed two heterozygous variants in the <jats:italic>ZNF526<\/jats:italic> gene (NM_133444.3): c.1426del (p.Val476Phefs*9), a <jats:italic>de novo<\/jats:italic> frameshift variant, and c.1513T;&gt;\u2009C (p.Cys505Arg), inherited from her mother. These previously unreported variants are on separate alleles, forming a compound heterozygous state correlated with the clinical presentation. Ocular anomalies were absent, while caf\u00e9\u2010au\u2010lait spots may represent a novel feature. Among 12 cases of Dentici\u2010Novelli neurodevelopmental syndrome, 11 unique <jats:italic>ZNF526<\/jats:italic> variants have been identified, with loss\u2010of\u2010function variants possibly linked to seizures.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study describes the youngest patient with Dentici\u2010Novelli neurodevelopmental syndrome, broadening the <jats:italic>ZNF526<\/jats:italic> mutation spectrum and detailing the associated clinical profile. These findings are valuable for genetic diagnosis and family counseling in cases of this syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70089","type":"journal-article","created":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T15:15:54Z","timestamp":1744125354000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Compound Heterozygous Variants in <scp><i>ZNF526<\/i><\/scp> Causing Dentici\u2010Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review"],"prefix":"10.1002","volume":"13","author":[{"given":"Shaoxin","family":"Li","sequence":"first","affiliation":[{"name":"Department of Rehabilitation Anhui Provincial Children's Hospital  Hefei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0208-0266","authenticated-orcid":false,"given":"Hui","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Anhui Provincial Children's Hospital  Hefei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Anhui Provincial Children's Hospital  Hefei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Peng","sequence":"additional","affiliation":[{"name":"Chigene (Beijing) Translational Medical Research Center Co.  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinsong","family":"Bao","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Anhui Provincial Children's Hospital  Hefei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunfei","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Anhui Provincial Children's Hospital  Hefei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Anhui Provincial Children's Hospital  Hefei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhige","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Anhui Provincial Children's Hospital  Hefei China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,8]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.12.015"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01159-0"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107430"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn782"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2020.12.016"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2024.08.010"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-021-08227-4"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2261"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/380309"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.27045"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.16755"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2022-109030"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-024-46578-0"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-020-0812-0"},{"issue":"8","key":"e_1_2_10_17_1","first-page":"613","article-title":"Case Report of Dentici\u2010Novelli Neurodevelopmental Syndrome Caused by a Novel Mutation in the ZNF526 Gene and Literature Review","volume":"39","author":"Zhang T. T.","year":"2024","journal-title":"Zhonghua Shi Yong Er Ke Lin Chuang Za Zhi"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sbi.2024.102836"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkad207"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70089","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T13:06:32Z","timestamp":1747314392000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70089"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1002\/mgg3.70089"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70089","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2025,4]]},"assertion":[{"value":"2024-11-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-08","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70089"}}