{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T10:35:48Z","timestamp":1786703748322,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,7,17]],"date-time":"2022-07-17T00:00:00Z","timestamp":1658016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2022,7,17]],"date-time":"2022-07-17T00:00:00Z","timestamp":1658016000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Obstet and Gynaecol"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Congenital hydrocephalus (CH) is a severe birth defect, and genetics components is an important etiology. Whole\u2010exome sequencing (WES) has been proven to be a feasible approach for prenatal diagnosis of CH. In this study, we carried out WES on three fetuses with cerebral ventriculomegaly. After bioinformation analysis and data filtering, three compound variants, c.919C&gt;T(p.Arg307Ter)\/c.1100del(p.Phe369fs) in\n                    <jats:italic>FKTN<\/jats:italic>\n                    , c.1449_1450insACAACG\/c.1490G&gt;C(p.Arg497Pro) in\n                    <jats:italic>POMGNT1<\/jats:italic>\n                    , and c.2690+1G&gt;A\/c.1447C&gt;T(p.Arg483Cys) in\n                    <jats:italic>LAMB1<\/jats:italic>\n                    were detected in the three fetuses. All the six variants were classified as likely pathogenic or pathogenic in accordance with the American College of Medical Genetics and Genomics\u2010Association for Molecular Pathology guidelines. This study provides support for the potential of WES for the accurate prenatal diagnosis of fetal hydrocephalus and further demonstrated the genetic heterogeneity in patients with CH. The novel variants (c.1449_1450insACAACG and c.1490G&gt;C in\n                    <jats:italic>POMGNT1<\/jats:italic>\n                    , c.2690+1G&gt;A in\n                    <jats:italic>LAMB1<\/jats:italic>\n                    ) expanded the gene mutational spectrum of CH and contributes to genetics counseling and pregnancy management.\n                  <\/jats:p>","DOI":"10.1111\/jog.15358","type":"journal-article","created":{"date-parts":[[2022,7,17]],"date-time":"2022-07-17T19:14:00Z","timestamp":1658085240000},"page":"2624-2629","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Compound variants of\n                    <scp>\n                      <i>FKTN<\/i>\n                    <\/scp>\n                    ,\n                    <scp>\n                      <i>POMGNT1<\/i>\n                    <\/scp>\n                    , and\n                    <scp>\n                      <i>LAMB1<\/i>\n                    <\/scp>\n                    gene identified by prenatal whole\u2010exome sequencing in three fetuses with congenital hydrocephalus"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7505-6680","authenticated-orcid":false,"given":"Meng","family":"Li","sequence":"first","affiliation":[{"name":"Guangxi Center for Birth Defects Research and Prevention Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning Guangxi P.R. China"},{"name":"Department of Clinical Genetics Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning Guangxi P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huayu","family":"Fu","sequence":"additional","affiliation":[{"name":"Guangxi Center for Birth Defects Research and Prevention Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning Guangxi P.R. China"},{"name":"Department of Clinical Genetics Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning Guangxi P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiao","family":"Li","sequence":"additional","affiliation":[{"name":"Guangxi Center for Birth Defects Research and Prevention Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning Guangxi P.R. China"},{"name":"Department of Clinical Genetics Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning Guangxi P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dahua","family":"Meng","sequence":"additional","affiliation":[{"name":"Guangxi Center for Birth Defects Research and Prevention Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning Guangxi P.R. China"},{"name":"Department of Clinical Genetics Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning Guangxi P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Guangxi Center for Birth Defects Research and Prevention Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning Guangxi P.R. China"},{"name":"Department of Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning Guangxi P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongmei","family":"Fei","sequence":"additional","affiliation":[{"name":"Guangxi Center for Birth Defects Research and Prevention Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning Guangxi P.R. China"},{"name":"Department of Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning Guangxi P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,7,17]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3171\/2017.10.JNS17439"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cvsm.2015.10.003"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-021-05230-8"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5616"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13395-018-0170-1"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-017-3441-y"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2018.10.016"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy032"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5201"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1054"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.05.129"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-020-01527-8"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg043"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.02.005"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001607"}],"container-title":["Journal of Obstetrics and Gynaecology Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jog.15358","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jog.15358","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jog.15358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T10:08:54Z","timestamp":1786702134000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/jog.15358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,17]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["10.1111\/jog.15358"],"URL":"https:\/\/doi.org\/10.1111\/jog.15358","archive":["Portico"],"relation":{},"ISSN":["1341-8076","1447-0756"],"issn-type":[{"value":"1341-8076","type":"print"},{"value":"1447-0756","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,17]]},"assertion":[{"value":"2022-03-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-26","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}