{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:22:33Z","timestamp":1762161753909,"version":"3.41.2"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,7,5]],"date-time":"2022-07-05T00:00:00Z","timestamp":1656979200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The molecular mutations of the <jats:italic>L1CAM<\/jats:italic> gene and the imaging appearances of four fetuses with L1 syndrome from three independent Chinese families with a history of hydrocephalus were reported in this study. Two of the three are novel L1CAM variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Results of clinical and imaging examinations of three Chinese families were collected. Fetal samples were collected by puncture, genomic DNA was extracted, whole\u2010exome sequencing was performed, and the <jats:italic>L1CAM<\/jats:italic> gene mutation sites were verified by PCR and Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In this case report, we described the imaging appearance and investigated the mutations of the <jats:italic>L1CAM<\/jats:italic> gene in three Chinese families with a history of L1 syndrome; these included two nonsense mutations (c.262C&gt;T and c.261C&gt;G) and one splice\u2010site mutation (c.524\u20101G&gt;A). Two of these three are novel <jats:italic>L1CAM<\/jats:italic> variants: c.262C&gt;T and c.261C&gt;G. The results of the sonographic images of the affected fetuses showed severe hydrocephalus. Bilateral lateral ventricles were dilated in the fetuses with c.262C&gt;T and c.261C&gt;G mutations. The left ventricle was about 14\u2009mm wide and the right was about 14\u2009mm in the fetus with c.262C&gt;T mutation. The left ventricle was about 24.9\u2009mm wide and the right was about 23.9\u2009mm in the fetus with c.261C&gt;G mutation. The ultrasound examination of the fetus with c.524\u20101G&gt;A mutation showed that the third ventricle (7.5\u2009mm wide) was raised, and the fourth ventricle was communicated with the cisterna magna. The parents requested termination of the above pregnancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The current study emphasizes the importance of combining family history, prenatal ultrasonography, and <jats:italic>L1CAM<\/jats:italic> mutation testing positive for the diagnosis of the L1 syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2002","type":"journal-article","created":{"date-parts":[[2022,7,6]],"date-time":"2022-07-06T06:40:36Z","timestamp":1657089636000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Analysis of <scp>L1CAM<\/scp> gene mutation and imaging appearance in three Chinese families with <scp>L1<\/scp> syndrome: Three case reports"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1209-3403","authenticated-orcid":false,"given":"Shanshan","family":"Gao","sequence":"first","affiliation":[{"name":"The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuechao","family":"Zhao","sequence":"additional","affiliation":[{"name":"The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7843-4381","authenticated-orcid":false,"given":"Ganye","family":"Zhao","sequence":"additional","affiliation":[{"name":"The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7442-5832","authenticated-orcid":false,"given":"Peng","family":"Dai","sequence":"additional","affiliation":[{"name":"The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0030-7638","authenticated-orcid":false,"given":"Xiangdong","family":"Kong","sequence":"additional","affiliation":[{"name":"The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,5]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010013\u20101146\u20101"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2006.00607.x"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048\u2010020\u201000629\u2010y"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12763"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031\u2010016\u20100754\u20103"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096\u20108628(20000501)92:1<40::aid\u2010ajmg7>3.0.co;2\u2010r"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010020\u201001063\u20105"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.3816"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2020.101999"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/pin.12245"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1031"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010019\u201039884\u2010x"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41592\u2010021\u201001174\u20108"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.1038"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.071688"}],"container-title":["Molecular Genetics &amp; 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