{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:19:09Z","timestamp":1762161549221,"version":"3.41.2"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,11,22]],"date-time":"2019-11-22T00:00:00Z","timestamp":1574380800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>X\u2010linked hydrocephalus (XLH), characterized by mental retardation and bilateral adducted thumbs, often come out to be a genetic disorder of <jats:italic>L1CAM<\/jats:italic>. It codes the protein L1 cell adhesion molecule (L1CAM), playing a crucial role in the development of the nervous system. The objective of the study was to report a new disease\u2010causing mutation site of <jats:italic>L1CAM<\/jats:italic>, and gain further insight into the pathophysiology of hydrocephalus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We collect the samples of a couple and their second hydrocephalic fetus. Then, the whole\u2010exome sequencing and in\u2010depth mutation analysis were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The variant c.2491delG (p.V831fs), located in the exon 19 of L1CAM (chrX:153131214), could damage the L1CAM function by producing a frameshift in the translation of fibronectin type\u2010III of L1CAM.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We identified a novel disease\u2010causing mutation in <jats:italic>L1CAM<\/jats:italic> for the first time, which further confirmed <jats:italic>L1CAM<\/jats:italic> as a gene underlying XLH cases.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1031","type":"journal-article","created":{"date-parts":[[2019,11,22]],"date-time":"2019-11-22T13:41:48Z","timestamp":1574430108000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A new frameshift mutation in L1CAM producing X\u2010linked hydrocephalus"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5654-5067","authenticated-orcid":false,"given":"Weiqi","family":"Kong","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis Sichuan Provincial Hospital for Women and Children Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueyan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Sichuan Provincial Hospital for Women and Children Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of image Sichuan Provincial Hospital for Women and Children Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of image Sichuan Provincial Hospital for Women and Children Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na","family":"Xi","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Sichuan Provincial Hospital for Women and Children Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengmei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of gynecology Sichuan Provincial Hospital for Women and Children Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,11,22]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_8_2_1","DOI":"10.1111\/j.1399-0004.2006.00607.x"},{"doi-asserted-by":"publisher","key":"e_1_2_8_3_1","DOI":"10.1083\/jcb.104.2.355"},{"doi-asserted-by":"publisher","key":"e_1_2_8_4_1","DOI":"10.1007\/s12031-016-0754-3"},{"doi-asserted-by":"publisher","key":"e_1_2_8_5_1","DOI":"10.1002\/humu.9242"},{"doi-asserted-by":"publisher","key":"e_1_2_8_6_1","DOI":"10.1111\/pin.12245"},{"doi-asserted-by":"publisher","key":"e_1_2_8_7_1","DOI":"10.1093\/bioinformatics\/btp324"},{"doi-asserted-by":"publisher","key":"e_1_2_8_8_1","DOI":"10.1007\/s00467-006-0424-8"},{"doi-asserted-by":"publisher","key":"e_1_2_8_9_1","DOI":"10.1016\/S0888-7543(05)80254-X"},{"doi-asserted-by":"publisher","key":"e_1_2_8_10_1","DOI":"10.1007\/s00431-015-2560-2"},{"doi-asserted-by":"publisher","key":"e_1_2_8_11_1","DOI":"10.1101\/gr.107524.110"},{"doi-asserted-by":"publisher","key":"e_1_2_8_12_1","DOI":"10.1038\/334701a0"},{"doi-asserted-by":"publisher","key":"e_1_2_8_13_1","DOI":"10.1007\/s10038-004-0153-4"},{"doi-asserted-by":"publisher","key":"e_1_2_8_14_1","DOI":"10.1084\/jem.20150951"},{"doi-asserted-by":"publisher","key":"e_1_2_8_15_1","DOI":"10.1002\/j.1460-2075.1984.tb01753.x"},{"doi-asserted-by":"publisher","key":"e_1_2_8_16_1","DOI":"10.1136\/jmg.27.11.688"},{"doi-asserted-by":"publisher","key":"e_1_2_8_17_1","DOI":"10.1371\/journal.pone.0086186"},{"doi-asserted-by":"publisher","key":"e_1_2_8_18_1","DOI":"10.1016\/j.ejmg.2014.06.002"},{"doi-asserted-by":"publisher","key":"e_1_2_8_19_1","DOI":"10.1136\/jmg.2009.071688"},{"issue":"1","key":"e_1_2_8_20_1","first-page":"1","article-title":"Hydrocephalus in Uganda: The predominance of infectious origin and primary management with endoscopic third ventriculostomy","volume":"102","author":"Warf B. 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