{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:43:51Z","timestamp":1740149031665,"version":"3.37.3"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T00:00:00Z","timestamp":1727654400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T00:00:00Z","timestamp":1727654400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/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":["82171701"],"award-info":[{"award-number":["82171701"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017594","name":"Medical Science and Technology Project of Zhejiang Province","doi-asserted-by":"publisher","award":["2022YK839"],"award-info":[{"award-number":["2022YK839"]}],"id":[{"id":"10.13039\/501100017594","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Social Programs of Wenzhou Technology Bureau","award":["2023Y0329"],"award-info":[{"award-number":["2023Y0329"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"DOI":"10.1186\/s12920-024-02012-4","type":"journal-article","created":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T10:01:56Z","timestamp":1727690516000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a novel intronic variant in COL4A2 gene associated with fetal severe cerebral encephalomalacia and subdural hemorrhage"],"prefix":"10.1186","volume":"17","author":[{"given":"Rong-Yue","family":"Sun","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing-Qing","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Si-Si","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua-Zhi","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan-Zhao","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun-Hui","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Jing","family":"Gong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mian-Mian","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Wei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing-Ye","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao-Sheng","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,9,30]]},"reference":[{"issue":"1","key":"2012_CR1","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1681\/ASN.2021111447","volume":"34","author":"X Yuan","year":"2023","unstructured":"Yuan X, et al. Genetic variants of the COL4A3, COL4A4, and COL4A5 genes contribute to thinned glomerular basement membrane lesions in sporadic IgA nephropathy patients. J Am Soc Nephrol. 2023;34(1):132\u201344.","journal-title":"J Am Soc Nephrol"},{"issue":"1","key":"2012_CR2","doi-asserted-by":"publisher","first-page":"2722","DOI":"10.1038\/s41598-022-06525-9","volume":"12","author":"JT Gibson","year":"2022","unstructured":"Gibson JT, et al. Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in gly substitutions in Alport syndrome. Sci Rep. 2022;12(1):2722.","journal-title":"Sci Rep"},{"issue":"1","key":"2012_CR3","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.matbio.2010.09.003","volume":"30","author":"T Oohashi","year":"2011","unstructured":"Oohashi T, et al. Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes. Matrix Biol. 2011;30(1):3\u20138.","journal-title":"Matrix Biol"},{"issue":"1","key":"2012_CR4","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1038\/s41431-021-00881-2","volume":"30","author":"A O\u2019Brien","year":"2022","unstructured":"O\u2019Brien A, et al. Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications. Eur J Hum Genet. 2022;30(1):7\u201312.","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"2012_CR5","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1002\/jemt.20564","volume":"71","author":"J Khoshnoodi","year":"2008","unstructured":"Khoshnoodi J, Pedchenko V, Hudson BG. Mammalian Collagen IV Microsc Res Tech. 2008;71(5):357\u201370.","journal-title":"Mammalian Collagen IV Microsc Res Tech"},{"issue":"1","key":"2012_CR6","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1016\/j.ajhg.2011.11.016","volume":"90","author":"Y Yoneda","year":"2012","unstructured":"Yoneda Y, et al. De novo and inherited mutations in COL4A2, encoding the type IV collagen \u03b12 chain cause porencephaly. Am J Hum Genet. 2012;90(1):86\u201390.","journal-title":"Am J Hum Genet"},{"key":"2012_CR7","doi-asserted-by":"crossref","unstructured":"Jeanne M, Gould DB. Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations. Matrix Biol, 2017. 57\u20138: pp. 29\u201344.","DOI":"10.1016\/j.matbio.2016.10.003"},{"issue":"9","key":"2012_CR8","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1212\/WNL.0b013e31820e7751","volume":"76","author":"ME Meuwissen","year":"2011","unstructured":"Meuwissen ME, et al. Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. Neurology. 2011;76(9):844\u20136.","journal-title":"Neurology"},{"issue":"4","key":"2012_CR9","doi-asserted-by":"publisher","first-page":"810","DOI":"10.1002\/ajmg.a.36907","volume":"167a","author":"A Decio","year":"2015","unstructured":"Decio A, et al. A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events. Am J Med Genet A. 2015;167a(4):810\u20135.","journal-title":"Am J Med Genet A"},{"issue":"5","key":"2012_CR10","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1002\/pd.6113","volume":"42","author":"T Coste","year":"2022","unstructured":"Coste T, et al. COL4A1\/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage. Prenat Diagn. 2022;42(5):601\u201310.","journal-title":"Prenat Diagn"},{"issue":"8","key":"2012_CR11","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1038\/ejhg.2012.20","volume":"20","author":"E Verbeek","year":"2012","unstructured":"Verbeek E, et al. COL4A2 mutation associated with familial porencephaly and small-vessel disease. Eur J Hum Genet. 2012;20(8):844\u201351.","journal-title":"Eur J Hum Genet"},{"issue":"26","key":"2012_CR12","doi-asserted-by":"publisher","first-page":"2687","DOI":"10.1056\/NEJMoa071906","volume":"357","author":"E Plaisier","year":"2007","unstructured":"Plaisier E, et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med. 2007;357(26):2687\u201395.","journal-title":"N Engl J Med"},{"issue":"3","key":"2012_CR13","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1002\/ana.20715","volume":"59","author":"MS van der Knaap","year":"2006","unstructured":"van der Knaap MS, et al. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Ann Neurol. 2006;59(3):504\u201311.","journal-title":"Ann Neurol"},{"issue":"9","key":"2012_CR14","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1212\/WNL.0000000000001309","volume":"84","author":"K Rannikm\u00e4e","year":"2015","unstructured":"Rannikm\u00e4e K, et al. Common variation in COL4A1\/COL4A2 is associated with sporadic cerebral small vessel disease. Neurology. 2015;84(9):918\u201326.","journal-title":"Neurology"},{"issue":"3","key":"2012_CR15","doi-asserted-by":"publisher","first-page":"e583","DOI":"10.1212\/NXG.0000000000000583","volume":"7","author":"S Bakhtiari","year":"2021","unstructured":"Bakhtiari S, et al. Recessive COL4A2 mutation leads to intellectual disability, Epilepsy, and spastic cerebral palsy. Neurol Genet. 2021;7(3):e583.","journal-title":"Neurol Genet"},{"issue":"11","key":"2012_CR16","doi-asserted-by":"publisher","first-page":"1654","DOI":"10.1038\/s41431-021-00880-3","volume":"29","author":"M Hausman-Kedem","year":"2021","unstructured":"Hausman-Kedem M, et al. Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations. Eur J Hum Genet. 2021;29(11):1654\u201362.","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"2012_CR17","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1002\/ajmg.a.61988","volume":"185","author":"S Koene","year":"2021","unstructured":"Koene S, et al. Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication. Am J Med Genet A. 2021;185(2):571\u20134.","journal-title":"Am J Med Genet A"},{"issue":"11","key":"2012_CR18","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1038\/gim.2014.210","volume":"17","author":"ME Meuwissen","year":"2015","unstructured":"Meuwissen ME, et al. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genet Med. 2015;17(11):843\u201353.","journal-title":"Genet Med"},{"key":"2012_CR19","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1007\/978-1-4939-7204-3_10","volume":"1648","author":"S Stein","year":"2017","unstructured":"Stein S, Bahrami-Samani E, Xing Y. Using RNA-Seq to Discover genetic polymorphisms that produce hidden splice variants. Methods Mol Biol. 2017;1648:129\u201342.","journal-title":"Methods Mol Biol"},{"issue":"2","key":"2012_CR20","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1093\/hmg\/ddt418","volume":"23","author":"LS Murray","year":"2014","unstructured":"Murray LS, et al. Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke. Hum Mol Genet. 2014;23(2):283\u201392.","journal-title":"Hum Mol Genet"},{"key":"2012_CR21","doi-asserted-by":"crossref","unstructured":"Hayashi G, Labelle-Dumais C, Gould DB. Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice. Dis Model Mech, 2018. 11(7).","DOI":"10.1242\/dmm.034157"},{"issue":"5","key":"2012_CR22","doi-asserted-by":"publisher","first-page":"1637","DOI":"10.1083\/jcb.98.5.1637","volume":"98","author":"R Mayne","year":"1984","unstructured":"Mayne R, et al. Monoclonal antibodies against chicken type IV and V collagens: electron microscopic mapping of the epitopes after rotary shadowing. J Cell Biol. 1984;98(5):1637\u201344.","journal-title":"J Cell Biol"},{"issue":"7","key":"2012_CR23","doi-asserted-by":"publisher","first-page":"1709","DOI":"10.1093\/hmg\/ddt560","volume":"23","author":"DS Kuo","year":"2014","unstructured":"Kuo DS, et al. Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations. Hum Mol Genet. 2014;23(7):1709\u201322.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"2012_CR24","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/j.ajhg.2011.11.022","volume":"90","author":"M Jeanne","year":"2012","unstructured":"Jeanne M, et al. COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Am J Hum Genet. 2012;90(1):91\u2013101.","journal-title":"Am J Hum Genet"},{"issue":"7","key":"2012_CR25","doi-asserted-by":"publisher","first-page":"798","DOI":"10.1093\/hmg\/ddm024","volume":"16","author":"DB Gould","year":"2007","unstructured":"Gould DB, et al. Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum Mol Genet. 2007;16(7):798\u2013807.","journal-title":"Hum Mol Genet"},{"issue":"5725","key":"2012_CR26","doi-asserted-by":"publisher","first-page":"1167","DOI":"10.1126\/science.1109418","volume":"308","author":"DB Gould","year":"2005","unstructured":"Gould DB, et al. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science. 2005;308(5725):1167\u201371.","journal-title":"Science"},{"issue":"18","key":"2012_CR27","doi-asserted-by":"publisher","first-page":"1555","DOI":"10.1161\/CIRCULATIONAHA.114.013395","volume":"131","author":"M Jeanne","year":"2015","unstructured":"Jeanne M, Jorgensen J, Gould DB. Molecular and genetic analyses of collagen type IV mutant mouse models of spontaneous intracerebral hemorrhage identify mechanisms for Stroke Prevention. Circulation. 2015;131(18):1555\u201365.","journal-title":"Circulation"},{"key":"2012_CR28","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/bs.ctm.2015.09.002","volume":"76","author":"M Mao","year":"2015","unstructured":"Mao M, et al. Type IV collagens and basement membrane diseases: Cell Biology and pathogenic mechanisms. Curr Top Membr. 2015;76:61\u2013116.","journal-title":"Curr Top Membr"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-024-02012-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-024-02012-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-024-02012-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T10:09:26Z","timestamp":1727690966000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-024-02012-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,30]]},"references-count":28,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["2012"],"URL":"https:\/\/doi.org\/10.1186\/s12920-024-02012-4","relation":{},"ISSN":["1755-8794"],"issn-type":[{"type":"electronic","value":"1755-8794"}],"subject":[],"published":{"date-parts":[[2024,9,30]]},"assertion":[{"value":"11 October 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 September 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 September 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":"The study was conducted in accordance with the Declaration of Helsinki and approved by the ethics committee of The First Affiliated Hospital of Wenzhou Medical University (No. YS2022-798). Informed consent to participate was obtained from all of the participants and parents of the minor participant in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical compliance and consent to Participate"}},{"value":"Informed consent for publication of identifying images or other personal or clinical details was obtained from all of the participants and from parents for minor participant.","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":"238"}}