{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T00:25:35Z","timestamp":1771028735849,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,11,11]],"date-time":"2022-11-11T00:00:00Z","timestamp":1668124800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["RO1 DC006483"],"award-info":[{"award-number":["RO1 DC006483"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["RO1 DC014496"],"award-info":[{"award-number":["RO1 DC014496"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81570929"],"award-info":[{"award-number":["81570929"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81730029"],"award-info":[{"award-number":["81730029"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873704"],"award-info":[{"award-number":["81873704"]}],"id":[{"id":"10.13039\/501100001809","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":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Coffin\u2010Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin\u2010remodeling complex encoding genes or the genes <jats:italic>SOX11<\/jats:italic> and <jats:italic>PHF6<\/jats:italic>. Herein, we performed whole\u2010exome sequencing (WES) and a series of analyses of growth\u2010related, auditory, and radiological findings in two probands with syndromic sensorineural hearing loss and inner ear malformations who exhibited distinctive facial features, intellectual disability, growth retardation, and fifth finger malformation. Two de novo variants in the <jats:italic>SOX11<\/jats:italic> gene (c.148A&gt;C:p.Lys50Asn; c.811_814del:p.Asn271Serfs*10) were detected in these probands and were identified as pathogenic variants as per ACMG guidelines. These probands were diagnosed as having CSS based upon clinical and genetic findings. This is the first report of CSS caused by variants in <jats:italic>SOX11<\/jats:italic> gene in Chinese individuals. Deleterious <jats:italic>SOX11<\/jats:italic> variants can result in sensorineural hearing loss with inner ear malformation, potentially extending the array of phenotypes associated with these pathogenic variants. We suggest that both genetic and clinical findings be considered when diagnosing syndromic hearing loss.<\/jats:p>","DOI":"10.1002\/ajmg.a.63011","type":"journal-article","created":{"date-parts":[[2022,11,12]],"date-time":"2022-11-12T06:29:43Z","timestamp":1668234583000},"page":"183-189","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Two <i>SOX11<\/i> variants cause <scp>Coffin\u2013Siris<\/scp> syndrome with a new feature of sensorineural hearing loss"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9616-7360","authenticated-orcid":false,"given":"Qiuquan","family":"Wang","sequence":"first","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery Chinese PLA General Hospital, Chinese PLA Medical School  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"State Key Lab of Hearing Science, Ministry of Education  Beijing China"},{"name":"Beijing Key Lab of hearing loss Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Wu","sequence":"additional","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery Chinese PLA General Hospital, Chinese PLA Medical School  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"State Key Lab of Hearing Science, Ministry of Education  Beijing China"},{"name":"Beijing Key Lab of hearing loss Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinyuan","family":"Yang","sequence":"additional","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery Chinese PLA General Hospital, Chinese PLA Medical School  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"State Key Lab of Hearing Science, Ministry of Education  Beijing China"},{"name":"Beijing Key Lab of hearing loss Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shasha","family":"Huang","sequence":"additional","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery Chinese PLA General Hospital, Chinese PLA Medical School  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"State Key Lab of Hearing Science, Ministry of Education  Beijing China"},{"name":"Beijing Key Lab of hearing loss Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongyi","family":"Yuan","sequence":"additional","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery Chinese PLA General Hospital, Chinese PLA Medical School  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"State Key Lab of Hearing Science, Ministry of Education  Beijing China"},{"name":"Beijing Key Lab of hearing loss Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pu","family":"Dai","sequence":"additional","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery Chinese PLA General Hospital, Chinese PLA Medical School  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"State Key Lab of Hearing Science, Ministry of Education  Beijing China"},{"name":"Beijing Key Lab of hearing loss Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,11]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1757-z"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.10.2495"},{"issue":"5","key":"e_1_2_12_4_1","first-page":"433","article-title":"Mental retardation with absent fifth fingernail and terminal phalanx","volume":"119","author":"Coffin G. S.","year":"1970","journal-title":"American Journal of Diseases of Children"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2195-y"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn162"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010215)99:1<1::AID-AJMG1127>3.0.CO;2-A"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1517371112"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.6.1185"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103393"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2443.2002.00536.x"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.7150\/ijbs.47510"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-017-2708-7"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31865"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/1055665617739312"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.ctdb.2019.01.007"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-016-0296-1"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31406"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2017.11.026"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12242"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-013-1523-x"},{"key":"e_1_2_12_22_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Schrier Vergano S.","year":"1993"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10162-011-0286-z"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.15.6635-6644.2004"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37592"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5011"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12225"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz089"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.01.014"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.23962"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/stem.3192"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31408"}],"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.63011","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63011","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63011","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T09:59:53Z","timestamp":1692439193000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,11]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1002\/ajmg.a.63011"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63011","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,11]]},"assertion":[{"value":"2021-08-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}