{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T11:08:42Z","timestamp":1784632122205,"version":"3.55.0"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,4,6]],"date-time":"2022-04-06T00:00:00Z","timestamp":1649203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81901382"],"award-info":[{"award-number":["81901382"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2018YFC1004903"],"award-info":[{"award-number":["2018YFC1004903"]}],"id":[{"id":"10.13039\/501100012166","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":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital hydrocephalus is one of the symptoms of Walker\u2013Warburg syndrome that is attributed to the disruptions of the genes, among which the <jats:italic>B3GALNT2<\/jats:italic> gene is rarely reported. A diagnosis of the Walker\u2013Warburg syndrome depends on the clinical manifestations and the whole\u2010exome sequencing after birth, which is unfavorable for an early diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Walker\u2013Warburg Syndrome was suspected in two families with severe fetal congenital hydrocephalus. Whole\u2010exome sequencing and Sanger sequencing were performed on the affected fetuses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The compound heterozygous variants c.1A&gt;G p.(Met1Val) and c.1151+1G&gt;A, and c.1068dupT p.(D357*) and c.1052\u2009T&gt;A p.(L351*) in the <jats:italic>B3GALNT2<\/jats:italic> gene were identified, which were predicted to be pathogenic and likely pathogenic, respectively. Walker\u2013Warburg syndrome was prenatally diagnosed on the basis of fetal imaging and whole\u2010exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings expand the spectrum of pathogenic mutations in Walker\u2013Warburg syndrome and provide new insights into the prenatal diagnosis of the disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jgm.3417","type":"journal-article","created":{"date-parts":[[2022,3,26]],"date-time":"2022-03-26T06:23:17Z","timestamp":1648275797000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Prenatal diagnosis of Walker\u2013Warburg syndrome due to compound mutations in the <i>B3GALNT2<\/i> gene"],"prefix":"10.1002","volume":"24","author":[{"given":"Peng","family":"Wang","sequence":"first","affiliation":[{"name":"Women's Hospital School of Medicine Zhejiang University  Hangzhou 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