{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:16:11Z","timestamp":1790694971316,"version":"4.1.0"},"reference-count":6,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>Introduction: Whole-exome sequencing (WES) is becoming widely available in prenatal diagnosis. However, as with most scientific methods, WES also has its limitations. The aim of the study was to report a fetal case of RNU4ATAC-opathy which was missed by prenatal WES. Case Presentation: A 28-year-old healthy primigravida was revealed by ultrasound at 20\u00a0+\u00a03 weeks of gestation to have a fetus with ventriculomegaly (left 15.1 mm\/right 11.9 mm), hypoplastic vermis, and mild growth retardation. Chromosomal microarray analysis and trio WES failed to detect a pathogenic copy number variation and sequence variant. A repeat ultrasound at 23\u00a0+\u00a03 weeks showed worsened growth delay and hydrocephalus (left 20.3 mm\/right 11.0 mm) with vermis hypoplasia and agenesis of corpus callosum. Further study with whole-genome sequencing (WGS) detected 2 missense mutations of the noncoding RNU4ATAC (NR_023343.1) gene, n.51G&gt;A (rs188343279) and n.16G&gt;A (rs750325275), in the fetus, which were inherited from the father and mother, respectively. Discussion: Our study highlights the limitation of WES. WGS might be a clinical option for patients who have a structurally abnormal fetus tested negative by WES.<\/jats:p>","DOI":"10.1159\/000524501","type":"journal-article","created":{"date-parts":[[2022,5,9]],"date-time":"2022-05-09T17:00:31Z","timestamp":1652115631000},"page":"522-526","source":"Crossref","is-referenced-by-count":5,"title":["Hydrocephalus and Growth Retardation: A Fetal RNU4ATAC-opathy Missed by Whole-Exome Sequencing"],"prefix":"10.1159","volume":"13","author":[{"given":"Yong-Shan","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie-Fu","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Quan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Bin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong-Zhi","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2022,5,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.183"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-021-02289-w"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111\/1471-0528.16533"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.02.032"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000283"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv259"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/13\/6\/522\/3915326\/000524501.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/13\/6\/522\/3915326\/000524501.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T12:03:14Z","timestamp":1745409794000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000524501"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":6,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2023,1,5]]},"published-print":{"date-parts":[[2023,1,12]]}},"URL":"https:\/\/doi.org\/10.1159\/000524501","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]}}}