{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T21:28:10Z","timestamp":1760909290613},"reference-count":34,"publisher":"Spandidos Publications","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Exp Ther Med"],"DOI":"10.3892\/etm.2021.10807","type":"journal-article","created":{"date-parts":[[2021,10,8]],"date-time":"2021-10-08T06:58:32Z","timestamp":1633676312000},"source":"Crossref","is-referenced-by-count":4,"title":["Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review"],"prefix":"10.3892","volume":"22","author":[{"given":"Rongyue","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R.\u00a0China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R.\u00a0China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaona","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R.\u00a0China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiyuan","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R.\u00a0China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ailan","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R.\u00a0China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinmei","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R.\u00a0China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2021,10,8]]},"reference":[{"key":"key20220302130741_b1-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1038\/334701a0","article-title":"Neural adhesion molecule L1 as a member of the immunoglobulinsuperfamily with binding domains similar to fibronectin","volume":"334","author":"Moos","year":"1988","journal-title":"Nature"},{"key":"key20220302130741_b2-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1111\/j.1399-0004.2006.00607.x","article-title":"Expanding the phenotypic spectrum of L1CAM-associated disease","volume":"69","author":"Basel-Vanagaite","year":"2006","journal-title":"Clin Genet"},{"key":"key20220302130741_b3-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1084\/jem.20150951","article-title":"Conditional deletion of L1CAM in human neurons impairs both axonal and dendritic arborization and action potential generation","volume":"213","author":"Patzke","year":"2016","journal-title":"J Exp Med"},{"key":"key20220302130741_b4-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1083\/jcb.104.2.355","article-title":"Extension of neuritis on axons is impaired by antibodies against specific neural cell surface glycoproteins","volume":"104","author":"Chang","year":"1987","journal-title":"J Cell Biol"},{"key":"key20220302130741_b5-ETM-0-0-10807","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/j.1460-2075.1984.tb01753.x","article-title":"Immunocytological and biochemical characterization of a new neuronal cell surface component (L1 antigen) which is involved in cell adhesion","volume":"3","author":"Rathjen","year":"1984","journal-title":"EMBO J"},{"key":"key20220302130741_b6-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1007\/s12031-016-0754-3","article-title":"A new splicing mutation in the L1CAM gene responsible for X-linked hydrocephalus (HSAS)","volume":"59","author":"Ferese","year":"2016","journal-title":"J Mol Neurosci"},{"key":"key20220302130741_b7-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1002\/(sici)1096-8628(20000501)92:1<40::aid-ajmg7>3.0.co;2-r","article-title":"Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease","volume":"92","author":"Finckh","year":"2000","journal-title":"Am J Med Genet"},{"key":"key20220302130741_b8-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1007\/s10038-004-0153-4","article-title":"Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM","volume":"49","author":"Okamoto","year":"2004","journal-title":"J Hum Genet"},{"key":"key20220302130741_b9-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1136\/jmg.35.5.399","article-title":"Genotype-phenotype correlation in L1 associated diseases","volume":"35","author":"Fransen","year":"1998","journal-title":"J Med Genet"},{"key":"key20220302130741_b10-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1136\/jmg.2009.071688","article-title":"Genotype-phenotype correlationsin L1 syndrome: A guide for genetic counselling and mutation analysis","volume":"47","author":"Vos","year":"2010","journal-title":"J Med Genet"},{"key":"key20220302130741_b11-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1055\/s-2007-973696","article-title":"CRASH syndrome: Mutations in L1CAM correlate with severity of the disease","volume":"28","author":"Yamasaki","year":"1997","journal-title":"Neuropediatrics"},{"issue":"2","key":"key20220302130741_b12-ETM-0-0-10807","doi-asserted-by":"publisher","DOI":"10.1186\/1743-8454-5-2","article-title":"The definition and classification of hydrocephalus: A personal recommendation to stimulate debate","volume":"5","author":"Rekate","year":"2008","journal-title":"Cerebrospinal Fluid Res"},{"key":"key20220302130741_b13-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"E1102","DOI":"10.1002\/humu.21172","article-title":"An updated and upgraded L1CAM mutation database","volume":"31","author":"Vos","year":"2010","journal-title":"Hum Mutat"},{"key":"key20220302130741_b14-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1007\/s004310050830","article-title":"Congenital hydrocephalus: Nosology and guidelines for clinical approach and genetic counselling","volume":"157","author":"Schrander-Stumpel","year":"1998","journal-title":"Eur J Pediatr"},{"key":"key20220302130741_b15-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1016\/j.bjhh.2014.09.011","article-title":"Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes","volume":"37","author":"Noronha","year":"2015","journal-title":"Rev Bras Hematol Hemoter"},{"issue":"e3180","key":"key20220302130741_b16-ETM-0-0-10807","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.3180","article-title":"A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus","volume":"22","author":"Guo","year":"2020","journal-title":"J Gene Med"},{"issue":"e1031","key":"key20220302130741_b17-ETM-0-0-10807","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1031","article-title":"A new frameshift mutation in L1CAM producing X-linked hydrocephalus","volume":"8","author":"Kong","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"key20220302130741_b18-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"403","DOI":"10.3109\/01443615.2015.1086982","article-title":"Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene","volume":"36","author":"Ochando","year":"2016","journal-title":"J Obstet Gynaecol"},{"key":"key20220302130741_b19-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1016\/j.clineuro.2018.06.007","article-title":"Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations","volume":"172","author":"Isik","year":"2018","journal-title":"Clin Neurol Neurosurg"},{"key":"key20220302130741_b20-ETM-0-0-10807","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1007\/s13258-016-0460-0","article-title":"Identification of novel mutations in L1CAM gene by a DHPLC-based assay","volume":"38","author":"Vinci","year":"2016","journal-title":"Genes Genomics"},{"key":"key20220302130741_b21-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1136\/jmg.33.2.103","article-title":"Five novel mutations in the L1CAM gene in families with X linked hydrocephalus","volume":"33","author":"Gu","year":"1996","journal-title":"J Med Genet"},{"key":"key20220302130741_b22-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1002\/(sici)1096-8628(19970822)71:3<336::aid-ajmg15>3.0.co;2-l","article-title":"Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait","volume":"71","author":"Gu","year":"1997","journal-title":"Am J Med Genet"},{"key":"key20220302130741_b23-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"S403","DOI":"10.3171\/ped.2006.105.5.403","article-title":"Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus","volume":"105 (Suppl 5)","author":"Kanemura","year":"2006","journal-title":"J Neurosurg"},{"key":"key20220302130741_b24-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1007\/s00383-009-2420-0","article-title":"L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease","volume":"25","author":"Jackson","year":"2009","journal-title":"Pediatr Surg Int"},{"key":"key20220302130741_b25-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"812","DOI":"10.1002\/ajmg.a.35245","article-title":"Hydrocephalus with Hirschsprung disease: Severe end of X-linked hydrocephalus spectrum","volume":"158","author":"Takenouchi","year":"2012","journal-title":"Am J Med Genet A"},{"key":"key20220302130741_b26-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1007\/s00401-013-1146-1","article-title":"Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: Evidence for closely related clinical entities of unknown molecular bases","volume":"126","author":"Adle-Biassette","year":"2013","journal-title":"Acta Neuropathol"},{"key":"key20220302130741_b27-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"1541","DOI":"10.1007\/s00431-015-2560-2","article-title":"Three cases with L1 syndrome and two novel mutations in the L1CAM gene","volume":"174","author":"Mar\u00edn","year":"2015","journal-title":"Eur J Pediatr"},{"key":"key20220302130741_b28-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"key":"key20220302130741_b29-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"key20220302130741_b30-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"1697","DOI":"10.1007\/s00381-020-04738-9","article-title":"Fetal therapy for congenital hydrocephalus-where we came from and where we are going","volume":"36","author":"Peiro","year":"2020","journal-title":"Childs Nerv Syst"},{"key":"key20220302130741_b31-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1056\/NEJM198607313150532","article-title":"Catheter shunts for fetal hydronephrosis and hydrocephalus. Report of the international fetal surgery registry","volume":"315","author":"Manning","year":"1986","journal-title":"N Engl J Med"},{"key":"key20220302130741_b32-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"1172","DOI":"10.1111\/aogs.13622","article-title":"Ventriculo-amniotic shunting for severe fetal ventriculomegaly","volume":"98","author":"Litwinska","year":"2019","journal-title":"Acta Obstet Gynecol Scand"},{"key":"key20220302130741_b33-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1111\/cga.12069","article-title":"Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene","volume":"54","author":"Serikawa","year":"2014","journal-title":"Congenit Anom (Kyoto)"},{"key":"key20220302130741_b34-ETM-0-0-10807","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/humu.1144","article-title":"Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene","volume":"18","author":"Weller","year":"2001","journal-title":"Hum Mutat"}],"container-title":["Experimental and Therapeutic Medicine"],"original-title":[],"deposited":{"date-parts":[[2022,3,2]],"date-time":"2022-03-02T11:07:49Z","timestamp":1646219269000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.spandidos-publications.com\/10.3892\/etm.2021.10807"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,8]]},"references-count":34,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2021,10,8]]}},"URL":"https:\/\/doi.org\/10.3892\/etm.2021.10807","relation":{},"ISSN":["1792-0981","1792-1015"],"issn-type":[{"value":"1792-0981","type":"print"},{"value":"1792-1015","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,8]]},"article-number":"1416"}}