{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T05:58:01Z","timestamp":1779256681717,"version":"3.51.4"},"reference-count":35,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,3,30]],"date-time":"2020-03-30T00:00:00Z","timestamp":1585526400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81600995"],"award-info":[{"award-number":["81600995"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Gene Medicine"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital hydrocephalus is a descriptive diagnosis of symptoms, that are present for numerous reasons, including chromosomal disorders, genetic mutations, intrauterine infection and hemorrhage, amongst other factors. Mutation of <jats:italic>L1CAM<\/jats:italic> gene is the most frequent cause of congenital hydrocephalus, contributing to approximately 30% of X\u2010linked congenital hydrocephalus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In the present study, we used whole\u2010exome sequencing and Sanger sequencing to investigate an aborted male fetus present with severe congenital hydrocephalus at 24 weeks of gestation, whose mother had a history of two previous voluntary terminations of pregnancies as a result of hydrocephalus. Magnetic resonance imaging, an autopsy and electron microscopy were performed and the phenotypic changes were described.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Whole\u2010exome sequencing in the fetus, as well as variant segregation analysis, revealed a novel maternally derived hemizygous nonsense mutation (c.2865G&gt;A; p. Y955*) in exon 21 of the <jats:italic>L1CAM<\/jats:italic> gene (NM_000425.4). Severe hydrocephalus was observed along with marked dilatation of lateral ventricles. An electron micrograph of the surface of lateral ventricle walls revealed a lack of ependymal cilia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The present study suggests that <jats:italic>L1CAM<\/jats:italic> mutation screening should be considered for a male fetus with isolated hydrocephalus, especially with a family history, which could facilitate prenatal diagnosis in a subsequent pregnancy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jgm.3180","type":"journal-article","created":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T02:24:54Z","timestamp":1583288694000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["A novel nonsense mutation in the <i>L1CAM<\/i> gene responsible for X\u2010linked congenital hydrocephalus"],"prefix":"10.1002","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1150-1754","authenticated-orcid":false,"given":"Dewei","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Gynaecology and Obstetrics, Xiangya Hospital Central South University  Changsha Hunan China"},{"name":"Fetal Medical Center, Xiangya Hospital Central South University  Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuting","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenyan","family":"Jian","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics, Xiangya Hospital Central South University  Changsha Hunan China"},{"name":"Fetal Medical Center, Xiangya Hospital Central South University  Changsha Hunan 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