{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T10:54:08Z","timestamp":1788260048357,"version":"build-2803163510"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,10,16]],"date-time":"2019-10-16T00:00:00Z","timestamp":1571184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,10,16]],"date-time":"2019-10-16T00:00:00Z","timestamp":1571184000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"the Maternal and Child Development Special Program of Haidian Maternal and Child Health Care Hospital","award":["201805"],"award-info":[{"award-number":["201805"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Autosomal recessive Robinow syndrome (ARRS) is a rare genetic disorder, which affects the development of multiple systems, particularly the bones.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>The aim of this study was to investigate the genetic cause of a ARRS fetus and to evaluate the reliability of whole\u2010exome sequencing (WES) in prenatal diagnosis on cases with indistinguishable multiple malformation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical and ultrasonic evaluations were conducted on the fetus, and multiplatform genetic techniques were used to identify the variation responsible for RS. The pathogenicity of the novel variation was evaluated by in silico methods. Western blotting (WB) and immunohistochemistry (IHC) were performed on fetal tissues after the fetus' stillbirth and postabortal autopsy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A compound heterozygous variation consisting c.613C\u00a0&gt;\u00a0T and c.904C\u00a0&gt;\u00a0T in\n                      <jats:italic>ROR2<\/jats:italic>\n                      gene was identified. In silico prediction suggested that c.904C\u00a0&gt;\u00a0T was a deleterious variant. IHC result demonstrated that\n                      <jats:italic>ror2<\/jats:italic>\n                      expression level of the proband in osteochondral tissue significantly increased comparing with that of the control sample.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      For the first time in Chinese population, we characterized a novel variation in\n                      <jats:italic>ROR2<\/jats:italic>\n                      gene causing ARRS. This study extended the mutation spectrum of ARRS and provided a promising strategy for prenatal diagnosis of cases with ambiguous multiple deformities.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.23074","type":"journal-article","created":{"date-parts":[[2019,10,16]],"date-time":"2019-10-16T05:27:28Z","timestamp":1571203648000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Whole\u2010exome sequencing identified compound heterozygous variants in\n                    <i>ROR2<\/i>\n                    gene in a fetus with Robinow syndrome"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9439-5124","authenticated-orcid":false,"given":"Kai","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Peking University International Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianjiang","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Center Haidian Maternal and Child Health Care Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Peking University International Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofei","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Center Haidian Maternal and Child Health Care Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huawei","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Center Haidian Maternal and Child Health Care Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guodong","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Center Haidian Maternal and Child Health Care Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongliang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Orthodontics School of Stomatology Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Qi","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Center Haidian Maternal and Child Health Care Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,10,16]]},"reference":[{"issue":"6","key":"e_1_2_6_2_1","first-page":"645","article-title":"A newly recognized dwarfing syndrome","volume":"117","author":"Robinow M","year":"1969","journal-title":"Am J Dis Child"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.5.305"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22156"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.02.015"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.01.005"},{"key":"e_1_2_6_7_1","unstructured":"GeneReview: ROR2\u2010Related Robinow Syndrome.https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1240. 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