{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T16:44:48Z","timestamp":1756572288287,"version":"3.28.0"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T00:00:00Z","timestamp":1730764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T00:00:00Z","timestamp":1730764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"Ningbo Top Medical and Health Research Program","award":["20220405"],"award-info":[{"award-number":["20220405"]}]},{"name":"Municipal Public Welfare Project of Ningbo","award":["2022S035"],"award-info":[{"award-number":["2022S035"]}]},{"name":"Ningbo Science and Technology Project","award":["2023Z178"],"award-info":[{"award-number":["2023Z178"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"DOI":"10.1186\/s12920-024-02035-x","type":"journal-article","created":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T09:05:05Z","timestamp":1730797505000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss\u2013Kruszka syndrome"],"prefix":"10.1186","volume":"17","author":[{"given":"Chunxiao","family":"Han","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Changshui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuxin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haibo","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,11,5]]},"reference":[{"issue":"10","key":"2035_CR1","doi-asserted-by":"publisher","first-page":"2075","DOI":"10.1002\/ajmg.a.61306","volume":"179","author":"P Kruszka","year":"2019","unstructured":"Kruszka P, Hu T, Hong S, Signer R, Cogne B, Isidor B, et al. Phenotype delineation of ZNF462 related syndrome. Am J Med Genet A. 2019;179(10):2075\u201382.","journal-title":"Am J Med Genet A"},{"issue":"8","key":"2035_CR2","doi-asserted-by":"publisher","first-page":"946","DOI":"10.1038\/ejhg.2017.86","volume":"25","author":"K Weiss","year":"2017","unstructured":"Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, et al. Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. Eur J Hum Genet. 2017;25(8):946\u201351.","journal-title":"Eur J Hum Genet"},{"key":"2035_CR3","doi-asserted-by":"publisher","first-page":"781832","DOI":"10.3389\/fgene.2022.781832","volume":"13","author":"S Zhao","year":"2022","unstructured":"Zhao S, Miao C, Wang X, Lu Y, Liu H, Zhang X. A nonsense variant of ZNF462 gene Associated with Weiss-Kruszka Syndrome-Like manifestations: a Case Study and Literature Review. Front Genet. 2022;13:781832.","journal-title":"Front Genet"},{"key":"2035_CR4","doi-asserted-by":"publisher","first-page":"1015021","DOI":"10.3389\/fgene.2022.1015021","volume":"13","author":"Y Zhou","year":"2022","unstructured":"Zhou Y, Liu J, Wu S, Li W, Zheng Y. Case report: a heterozygous mutation in ZNF462 leads to growth hormone deficiency. Front Genet. 2022;13:1015021.","journal-title":"Front Genet"},{"issue":"7","key":"2035_CR5","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1038\/sj.ejhg.5200995","volume":"11","author":"MB Ramocki","year":"2003","unstructured":"Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, et al. Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. Eur J Hum Genet. 2003;11(7):527\u201334.","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"2035_CR6","doi-asserted-by":"publisher","first-page":"e2116","DOI":"10.1002\/mgg3.2116","volume":"11","author":"L Brady","year":"2023","unstructured":"Brady L, Ballantyne M, Duck J, Fisker T, Kleefman R, Li C, et al. Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462. Mol Genet Genomic Med. 2023;11(3):e2116.","journal-title":"Mol Genet Genomic Med"},{"issue":"1","key":"2035_CR7","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1080\/17843286.2020.1780391","volume":"77","author":"R Gonzalez-Tarancon","year":"2022","unstructured":"Gonzalez-Tarancon R, Salvador-Ruperez E, Miramar Gallart MD, Barroso E, Diez Garcia-Prieto I, Perez Delgado R, et al. A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report. Acta Clin Belg. 2022;77(1):118\u201321.","journal-title":"Acta Clin Belg"},{"issue":"8","key":"2035_CR8","doi-asserted-by":"publisher","first-page":"e249","DOI":"10.1093\/rheumatology\/kead035","volume":"62","author":"M Constantinou","year":"2023","unstructured":"Constantinou M, Lampi M, Parperis K, Neocleous V, Fanis P, Phylactou L, et al. A novel pathogenic variant in ZNF462 gene associated with Weiss-Kruszka syndrome and systemic lupus erythematosus. Rheumatology (Oxford). 2023;62(8):e249\u201350.","journal-title":"Rheumatology (Oxford)"},{"issue":"7616","key":"2035_CR9","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285\u201391.","journal-title":"Nature"},{"issue":"2","key":"2035_CR10","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1074\/mcp.M113.035600","volume":"13","author":"L Fagerberg","year":"2014","unstructured":"Fagerberg L, Hallstrom BM, Oksvold P, Kampf C, Djureinovic D, Odeberg J, et al. Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. Mol Cell Proteom. 2014;13(2):397\u2013406.","journal-title":"Mol Cell Proteom"},{"issue":"1","key":"2035_CR11","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1016\/j.ydbio.2008.12.005","volume":"327","author":"A Laurent","year":"2009","unstructured":"Laurent A, Masse J, Omilli F, Deschamps S, Richard-Parpaillon L, Chartrain I, et al. ZFPIP\/Zfp462 is maternally required for proper early Xenopus laevis development. Dev Biol. 2009;327(1):169\u201376.","journal-title":"Dev Biol"},{"issue":"2","key":"2035_CR12","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1016\/j.molcel.2012.10.026","volume":"49","author":"HC Eberl","year":"2013","unstructured":"Eberl HC, Spruijt CG, Kelstrup CD, Vermeulen M, Mann M. A map of general and specialized chromatin readers in mouse tissues generated by label-free interaction proteomics. Mol Cell. 2013;49(2):368\u201378.","journal-title":"Mol Cell"},{"issue":"1","key":"2035_CR13","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1038\/s41556-022-01051-2","volume":"25","author":"R Yelagandula","year":"2023","unstructured":"Yelagandula R, Stecher K, Novatchkova M, Michetti L, Michlits G, Wang J, et al. ZFP462 safeguards neural lineage specification by targeting G9A\/GLP-mediated heterochromatin to silence enhancers. Nat Cell Biol. 2023;25(1):42\u201355.","journal-title":"Nat Cell Biol"},{"issue":"7","key":"2035_CR14","doi-asserted-by":"publisher","first-page":"1190","DOI":"10.1016\/j.yexcr.2010.02.024","volume":"316","author":"J Masse","year":"2010","unstructured":"Masse J, Laurent A, Nicol B, Guerrier D, Pellerin I, Deschamps S. Involvement of ZFPIP\/Zfp462 in chromatin integrity and survival of P19 pluripotent cells. Exp Cell Res. 2010;316(7):1190\u2013201.","journal-title":"Exp Cell Res"},{"issue":"2","key":"2035_CR15","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1111\/gbb.12339","volume":"16","author":"B Wang","year":"2017","unstructured":"Wang B, Zheng Y, Shi H, Du X, Zhang Y, Wei B, et al. Zfp462 deficiency causes anxiety-like behaviors with excessive self-grooming in mice. Genes Brain Behav. 2017;16(2):296\u2013307.","journal-title":"Genes Brain Behav"},{"issue":"1","key":"2035_CR16","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1177\/155005940503600105","volume":"36","author":"JR Hughes","year":"2005","unstructured":"Hughes JR, Melyn M. EEG and seizures in autistic children and adolescents: further findings with therapeutic implications. Clin EEG Neurosci. 2005;36(1):15\u201320.","journal-title":"Clin EEG Neurosci"},{"key":"2035_CR17","unstructured":"Xu CJ, Zhao XR, Zhang GZ, Li EZ, Wang J, Yang SH et al. EEG analysis of children with autism spectrum disorder and non epileptic mental retardation. Chin J Med. 2017;52(9):76\u20138."}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-024-02035-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-024-02035-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-024-02035-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T20:05:45Z","timestamp":1730837145000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-024-02035-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,5]]},"references-count":17,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["2035"],"URL":"https:\/\/doi.org\/10.1186\/s12920-024-02035-x","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,5]]},"assertion":[{"value":"31 January 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 November 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the Ethics Committee of Ningbo Women and Children\u2019s Hospital (EC2020-048). All methods were carried out in accordance with the relevant guidelines and regulation. The informed consent to participate was obtained from all of the participants and parents\/legal guardians of minors.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All the participants and the legal guardians\/parents of minors gave written informed consent for their personal or clinical details along with any identifying images to be published in this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"261"}}