{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T12:00:10Z","timestamp":1772193610345,"version":"3.50.1"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T00:00:00Z","timestamp":1769817600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T00:00:00Z","timestamp":1772150400000},"content-version":"vor","delay-in-days":27,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"Huaqiao University Joint of Hospital and University Innovation Project","award":["2023YX001"],"award-info":[{"award-number":["2023YX001"]}]},{"name":"Quanzhou High-Level Talent Innovation & Entrepreneurship Projects","award":["2025QZC37R"],"award-info":[{"award-number":["2025QZC37R"]}]},{"name":"Joint Funds for the Innovation of Science and Technology, Fujian Province","award":["2024Y9459"],"award-info":[{"award-number":["2024Y9459"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genomics"],"DOI":"10.1186\/s40246-026-00922-1","type":"journal-article","created":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T14:03:15Z","timestamp":1769868195000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier\u2013Gorlin syndrome-7 using whole exome sequencing"],"prefix":"10.1186","volume":"20","author":[{"given":"Jianlong","family":"Zhuang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junyu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunnuan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,1,31]]},"reference":[{"key":"922_CR1","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1186\/s13023-015-0322-x","volume":"10","author":"SA de Munnik","year":"2015","unstructured":"de Munnik SA, Hoefsloot EH, Roukema J, et al. Meier-Gorlin syndrome. Orphanet J Rare Dis. 2015;10:114.","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"922_CR2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.04.009","volume":"63","author":"CY Ting","year":"2020","unstructured":"Ting CY, Bhatia NS, Lim JY, et al. Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature. Eur J Med Genet. 2020;63(2):103652.","journal-title":"Eur J Med Genet"},{"issue":"29","key":"922_CR3","doi-asserted-by":"publisher","first-page":"18205","DOI":"10.1074\/jbc.273.29.18205","volume":"273","author":"P Saha","year":"1998","unstructured":"Saha P, Thome KC, Yamaguchi R, Hou Z, Weremowicz S, Dutta A. The human homolog of Saccharomyces cerevisiae CDC45. J Biol Chem. 1998;273(29):18205\u20139.","journal-title":"J Biol Chem"},{"issue":"4","key":"922_CR4","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1016\/j.molcel.2006.01.030","volume":"21","author":"M Pacek","year":"2006","unstructured":"Pacek M, Tutter AV, Kubota Y, Takisawa H, Walter JC. Localization of MCM2-7, Cdc45, and GINS to the site of DNA unwinding during eukaryotic DNA replication. Mol Cell. 2006;21(4):581\u20137.","journal-title":"Mol Cell"},{"issue":"1","key":"922_CR5","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/j.ajhg.2016.05.019","volume":"99","author":"AL Fenwick","year":"2016","unstructured":"Fenwick AL, Kliszczak M, Cooper F, et al. Mutations in CDC45, encoding an essential component of the Pre-initiation Complex, cause Meier-Gorlin syndrome and craniosynostosis. Am J Hum Genet. 2016;99(1):125\u201338.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"922_CR6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104182","volume":"64","author":"KM Knapp","year":"2021","unstructured":"Knapp KM, Fellows B, Aggarwal S, Dalal A, Bicknell LS. A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis. Eur J Med Genet. 2021;64(4):104182.","journal-title":"Eur J Med Genet"},{"issue":"1","key":"922_CR7","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-021-03589-9","volume":"21","author":"J Zhuang","year":"2021","unstructured":"Zhuang J, Chen C, Jiang Y, et al. Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China. BMC Pregnancy Childbirth. 2021;21(1):94.","journal-title":"BMC Pregnancy Childbirth"},{"issue":"2","key":"922_CR8","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","volume":"22","author":"ER Riggs","year":"2020","unstructured":"Riggs ER, Andersen EF, Cherry AM, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020;22(2):245\u201357.","journal-title":"Genet Med"},{"issue":"1","key":"922_CR9","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-021-03202-9","volume":"20","author":"X Chen","year":"2022","unstructured":"Chen X, Jiang Y, Chen R, et al. Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies. J Transl Med. 2022;20(1):10.","journal-title":"J Transl Med"},{"issue":"5","key":"922_CR10","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405\u201324.","journal-title":"Genet Med"},{"key":"922_CR11","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.924573","volume":"13","author":"J Zhuang","year":"2022","unstructured":"Zhuang J, Chen C, Wang Y, et al. Case report: prenatal whole-exome sequencing identified a novel nonsense mutation of the KCNH2 gene in a fetus with familial 2q14.2 duplication. Front Genet. 2022;13:924573.","journal-title":"Front Genet"},{"issue":"1","key":"922_CR12","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-023-01433-x","volume":"16","author":"J Zhuang","year":"2023","unstructured":"Zhuang J, Xie M, Yao J, et al. A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures. BMC Med Genomics. 2023;16(1):3.","journal-title":"BMC Med Genomics"},{"issue":"2","key":"922_CR13","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.ejmg.2018.06.010","volume":"62","author":"Y Qiao","year":"2019","unstructured":"Qiao Y, Bagheri H, Tang F, et al. Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication. Eur J Med Genet. 2019;62(2):103\u20138.","journal-title":"Eur J Med Genet"},{"issue":"7","key":"922_CR14","doi-asserted-by":"publisher","first-page":"1782","DOI":"10.1002\/ajmg.a.38247","volume":"173","author":"Y Qiao","year":"2017","unstructured":"Qiao Y, Badduke C, Tang F, et al. Whole exome sequencing of families with 1q21.1 microdeletion or microduplication. Am J Med Genet A. 2017;173(7):1782\u201391.","journal-title":"Am J Med Genet A"},{"issue":"8","key":"922_CR15","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1016\/j.ejmg.2013.06.001","volume":"56","author":"P Kannu","year":"2013","unstructured":"Kannu P, Campos-Xavier AB, Hull D, Martinet D, Ballhausen D, Bonaf\u00e9 L. Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5 [published correction appears in Genet Med. 2021 Nov;23(11):2230]. Eur J Med Genet. 2013;56(8):452\u20137.","journal-title":"Eur J Med Genet"},{"key":"922_CR16","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2020.144816","volume":"753","author":"E Siavrien\u0117","year":"2020","unstructured":"Siavrien\u0117 E, Preik\u0161aitien\u0117 E, Mald\u017eien\u0117 \u017d, et al. A de novo 13q31.3 microduplication encompassing the miR-17\u2009~\u200992 cluster results in features mirroring those associated with Feingold syndrome 2. Gene. 2020;753:144816.","journal-title":"Gene"},{"key":"922_CR17","doi-asserted-by":"publisher","DOI":"10.1155\/2022\/4678026","volume":"2022","author":"Y Liu","year":"2022","unstructured":"Liu Y, Zhang L, Mei R, et al. The role of SliTrk5 in central nervous system. BioMed Res Int. 2022;2022:4678026.","journal-title":"BioMed Res Int"},{"issue":"6","key":"922_CR18","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1038\/ejhg.2011.269","volume":"20","author":"SA de Munnik","year":"2012","unstructured":"de Munnik SA, Bicknell LS, Aftimos S, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012;20(6):598\u2013606.","journal-title":"Eur J Hum Genet"},{"issue":"8","key":"922_CR19","doi-asserted-by":"publisher","first-page":"859","DOI":"10.1038\/s41431-023-01359-z","volume":"31","author":"E Nielsen-Dandoroff","year":"2023","unstructured":"Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS. The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome. Eur J Hum Genet. 2023;31(8):859\u201368.","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"922_CR20","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1186\/s12884-021-03868-5","volume":"21","author":"X Li","year":"2021","unstructured":"Li X, Zhang LZ, Yu L, Long ZL, Lin AY, Gou CY. Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation. BMC Pregnancy Childbirth. 2021;21(1):381.","journal-title":"BMC Pregnancy Childbirth"}],"container-title":["Human Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40246-026-00922-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40246-026-00922-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40246-026-00922-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T10:47:30Z","timestamp":1772189250000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s40246-026-00922-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,31]]},"references-count":20,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["922"],"URL":"https:\/\/doi.org\/10.1186\/s40246-026-00922-1","relation":{},"ISSN":["1479-7364"],"issn-type":[{"value":"1479-7364","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,31]]},"assertion":[{"value":"26 October 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 January 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 January 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Ethics Committee approval was obtained from the Institutional Ethics Committee of Quanzhou Women\u2019s and Children\u2019s Hospital for the commencement of this study (2023No.56). We received informed consent from the study participants, and they agreed to the publication of a report on the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"We confirm that written informed consent was signed by the patient\u2019s parents for publishing their own and their children\u2019s genetic data and relevant information, and the written informed consent is available for request.","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":"45"}}