{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T20:36:36Z","timestamp":1773174996897,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2012,4,23]],"date-time":"2012-04-23T00:00:00Z","timestamp":1335139200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pierre Robin sequence (PRS) can occur as a component of campomelic dysplasia (CD) and acampomelic CD (ACD) caused by dysfunction or dysregulation of SOX9, although it can also take place as an isolated form. Recently, genomic alterations in the far upstream and the far downstream region of <jats:italic>SOX9<\/jats:italic> have been identified in patients with isolated PRS. Here, we report on a male patient with PRS and a heterozygous genomic rearrangement in the 5\u2032 region of <jats:italic>SOX9<\/jats:italic>. Clinical analysis revealed PRS\u2010compatible craniofacial anomalies, mild hypoplasia of the left scapula, and normal male external genitalia. Molecular analysis identified a paracentric inversion on the long arm of chromosome 17 with breakpoints at 17q21.31 and 17q24.3, and a microdeletion spanning from \u22124.15 to \u22121.16\u2009Mb relative to <jats:italic>SOX9<\/jats:italic>. These findings indicate that the chromosomal region more than 1.16\u2009Mb apart from <jats:italic>SOX9<\/jats:italic> contains at least one developmental enhancer(s) for <jats:italic>SOX9<\/jats:italic> that plays a critical role in the development of the mandible and a relatively small role in the development of the scapula. Moreover, the concept of exclusion mapping argues that putative CD\/ACD loci are located within the 1.16\u2009Mb region closest to <jats:italic>SOX9<\/jats:italic> coding exons, which remain intact in this Non\u2010CD\/ACD patient. This study provides a novel example for long\u2010range <jats:italic>cis<\/jats:italic>\u2010regulatory mutations of <jats:italic>SOX9<\/jats:italic>. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35308","type":"journal-article","created":{"date-parts":[[2012,4,23]],"date-time":"2012-04-23T21:27:01Z","timestamp":1335216421000},"page":"1529-1534","source":"Crossref","is-referenced-by-count":24,"title":["Complex genomic rearrangement in the <i>SOX9<\/i> 5\u2032 region in a patient with Pierre Robin sequence and hypoplastic left scapula"],"prefix":"10.1002","volume":"158A","author":[{"given":"Maki","family":"Fukami","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayoshi","family":"Tsuchiya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuji","family":"Takada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiko","family":"Kanbara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Asahara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arisa","family":"Igarashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasunori","family":"Kamiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,4,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/342360"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302585"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.329"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.068361"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/429254"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.117784"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.046177"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.010157"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32830"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deq167"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00736.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.6.415"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.1.91"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.013185"},{"key":"e_1_2_6_16_1","first-page":"541","article-title":"Glossoptosis due to atresia and hypertrophy of the mandible","volume":"48","author":"Robin P","year":"1934","journal-title":"Am J Dis Child"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06944"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/429252"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90493-X"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33107"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0017793"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.87.2.160"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35308","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35308","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:55:51Z","timestamp":1697615751000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,23]]},"references-count":21,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["10.1002\/ajmg.a.35308"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35308","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,23]]}}}