{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:12:32Z","timestamp":1772118752490,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T00:00:00Z","timestamp":1646956800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010877","name":"Science, Technology and Innovation Commission of Shenzhen Municipality","doi-asserted-by":"publisher","award":["JCYJ20180306173032583"],"award-info":[{"award-number":["JCYJ20180306173032583"]}],"id":[{"id":"10.13039\/501100010877","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Bainbridge\u2010Ropers syndrome (BRPS, OMIM #615485) was first identified in 2013 by Bainbridge et al. and is a neurodevelopment disorder characterized by failure to thrive, facial dysmorphism and severe developmental delay. BRPS is caused by heterozygous loss\u2010of\u2010function (LOF) variants in the additional sex combs\u2010like 3 (\n                      <jats:italic>ASXL3<\/jats:italic>\n                      ) gene. Due to the limited specific recognizable features and overlapping symptoms with Bohring\u2013Opitz syndrome (BOS, OMIM #612990), clinical diagnosis of BRPS is challenging.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this study, a 2\u2010year\u20108\u2010month\u2010old Chinese girl was referred for genetic evaluation of severe developmental delay. The reduced fetal movement was found during the antenatal period and bilateral varus deformity of feet was observed at birth. Whole\u2010exome sequencing and Sanger sequencing were used to detect and confirm the variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A novel nonsense variant c.1063G&gt;T (p.E355*) in the\n                      <jats:italic>ASXL3<\/jats:italic>\n                      gene (NM_030632.3) was identified in the proband and the clinical symptoms were compatible with BRPS. The parents were physical and genetic normal and prenatal diagnosis was requested for her pregnant mother with a negative Sanger sequencing result.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The study revealed a de novo LOF variant in the\n                      <jats:italic>ASXL3<\/jats:italic>\n                      gene and expanded the mutation spectrum for this clinical condition. By performing a literature review, we summarized genetic results and the clinical phenotypes of all BPRSs reported so far. More cases study may help to elucidate the function of the\n                      <jats:italic>ASXL3<\/jats:italic>\n                      gene may be critical to understand the genetic aetiology of this syndrome and assist in accurate genetic counselling, informed decision making and prenatal diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1924","type":"journal-article","created":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T13:49:28Z","timestamp":1647006568000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["De novo nonsense variant in\n                    <scp>\n                      <i>ASXL3<\/i>\n                    <\/scp>\n                    in a Chinese girl causing Bainbridge\u2013Ropers syndrome: A case report and review of literature"],"prefix":"10.1002","volume":"10","author":[{"given":"Qin","family":"Wang","sequence":"first","affiliation":[{"name":"Affiliated Shenzhen Maternity &amp; Child Healthcare Hospital Southern Medical University  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianming","family":"Zhang","sequence":"additional","affiliation":[{"name":"Affiliated Shenzhen Maternity &amp; Child Healthcare Hospital Southern Medical University  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nan","family":"Jiang","sequence":"additional","affiliation":[{"name":"Affiliated Shenzhen Maternity &amp; Child Healthcare Hospital Southern Medical University  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiansheng","family":"Xie","sequence":"additional","affiliation":[{"name":"Affiliated Shenzhen Maternity &amp; Child Healthcare Hospital Southern Medical University  Shenzhen China"},{"name":"The University of Hong Kong\u2010Shenzhen Hospital Shenzhen  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingxin","family":"Yang","sequence":"additional","affiliation":[{"name":"Affiliated Shenzhen Maternity &amp; Child Healthcare Hospital Southern Medical University  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2652-3550","authenticated-orcid":false,"given":"Xiaoshan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Affiliated Shenzhen Maternity &amp; Child Healthcare Hospital Southern Medical University  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,3,11]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1191"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm415"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104360"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.1361"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000189"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-6-32"},{"issue":"3","key":"e_1_2_11_8_1","first-page":"275","article-title":"Analysis of ASXL3 gene variant in a child with Bainbridge\u2010Ropers syndrome","volume":"38","author":"Duan F.","year":"2021","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2018.11.035"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02200-z"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2009.07697.x"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13633-017-0047-9"},{"issue":"03","key":"e_1_2_11_13_1","first-page":"212","article-title":"Bainbridge\u2010Ropers syndrome: A case report and literature review","volume":"37","author":"Gou J.","year":"2019","journal-title":"Journal of Clinical Pediatrics"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.234"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37653"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.205070.116"},{"issue":"3","key":"e_1_2_11_17_1","doi-asserted-by":"crossref","first-page":"a002410","DOI":"10.1101\/mcs.a002410","article-title":"A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge\u2010Ropers syndrome","volume":"4","author":"Koboldt D. 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