{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:36:38Z","timestamp":1787067398113,"version":"build-2736575974"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T00:00:00Z","timestamp":1675900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2022M713615"],"award-info":[{"award-number":["2022M713615"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Coffin\u2013Siris syndrome (CSS) 6 is caused by heterozygous pathogenic variants in the AT\u2010rich interaction domain 2 (\n                    <jats:italic>ARID2<\/jats:italic>\n                    ) gene on 12q12. Currently, only 26 cases with both detailed clinical and genetic information have been documented in the literature. Microdeletions of the entire\n                    <jats:italic>ARID2<\/jats:italic>\n                    gene are rare. In this study, we report a 5\u2010year\u20107\u2010month\u2010old Chinese female who underwent whole\u2010exome sequencing to discover that she had a de novo 1.563\u2009Mb heterozygous copy number loss at 12q12q13.11, involving an entire deletion of\n                    <jats:italic>ARID2<\/jats:italic>\n                    . The female had severe short stature with obvious dysmorphic facial features, global developmental delay and hypoplastic fingers and toes. Her growth hormone level was normal, with reduced IGF\u20101 and increased CA19\u20109 levels. After a review of the 27 patients with\n                    <jats:italic>ARID2<\/jats:italic>\n                    deficiency, a significant positive correlation was observed between age and height standard deviation score (SDS) (r\u00a0=\u00a00.71,\n                    <jats:italic>p<\/jats:italic>\n                    \u00a0=\u00a00.0002), suggesting a possibility of growth catch\u2010up. This study expands the genetic and phenotypic spectrum of CCS6 and provides a decision\u2010making reference for growth hormone therapy.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63139","type":"journal-article","created":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T05:09:57Z","timestamp":1675919397000},"page":"1240-1249","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<scp>\n                      <i>ARID2<\/i>\n                    <\/scp>\n                    , a rare cause of\n                    <scp>Coffin\u2010Siris<\/scp>\n                    syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8840-6897","authenticated-orcid":false,"given":"Dan","family":"Xia","sequence":"first","affiliation":[{"name":"Cellular and Molecular Diagnostics Center, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuyun","family":"Deng","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Diagnostics Center, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenchen","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Children's Neuro\u2010endocrinology Sun Yat\u2010sen Memorial Hospital, Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojuan","family":"Li","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Diagnostics Center, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Children's Neuro\u2010endocrinology Sun Yat\u2010sen Memorial Hospital, Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoqin","family":"Xiao","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Diagnostics Center, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofang","family":"Peng","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Diagnostics Center, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jieming","family":"Zhang","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Diagnostics Center, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8408-6398","authenticated-orcid":false,"given":"Zhanwen","family":"He","sequence":"additional","affiliation":[{"name":"Department of Children's Neuro\u2010endocrinology Sun Yat\u2010sen Memorial Hospital, Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhe","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Children's Neuro\u2010endocrinology Sun Yat\u2010sen Memorial Hospital, Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zulin","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Children's Neuro\u2010endocrinology Sun Yat\u2010sen Memorial Hospital, Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nengtai","family":"Ouyang","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Diagnostics Center, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4112-3520","authenticated-orcid":false,"given":"Liyang","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Children's Neuro\u2010endocrinology Sun Yat\u2010sen Memorial Hospital, Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,2,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-021-01505-w"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2018.00252"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1757-z"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.25730"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32280"},{"key":"e_1_2_10_7_1","first-page":"37","article-title":"A new case of interstitial 12q deletion","volume":"15","author":"Gallego M.","year":"2000","journal-title":"Int Pediatr"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.04.014"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37356"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107111"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61075"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-021-01104-9"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61823"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-015-0454-0"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1155\/2022\/1688460"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<416::AID-AJMG13>3.0.CO;2-R"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2219"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38407"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12060937"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36515"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2022.146638"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.911954"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12279"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33112"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1080\/15384047.2021.2011643"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63139","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63139","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63139","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T23:42:12Z","timestamp":1697067732000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63139"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,9]]},"references-count":24,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1002\/ajmg.a.63139"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63139","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,9]]},"assertion":[{"value":"2022-12-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}