{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:12Z","timestamp":1747146132823,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,8,2]],"date-time":"2023-08-02T00:00:00Z","timestamp":1690934400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["860635"],"award-info":[{"award-number":["860635"]}],"id":[{"id":"10.13039\/501100000780","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":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Waardenburg syndrome (WS) is characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Among the four types, WS Type 2 (WS2) is the only one without a remarkable distinguishing feature. Here, we report a patient initially diagnosed with WS2 who exhibits a 446\u2009kb mosaic duplication in chromosome 22q13.1, encompassing <jats:italic>SOX10<\/jats:italic>, and detected using whole genome sequencing in a trio. The patient, a 46,XY boy, presents with profound bilateral sensorineural hearing loss, right heterochromia iridium, left bright blue iris, and skin\u2010depigmented areas in the abdomen and limbs. Vestibular and imaging tests are normal, without inner ear or olfactory bulb malformations. Bilateral cochlear implantation did not prevent language and speech delays. Moderate congenital chronic constipation and neurodevelopmental difficulties were also present. Given the few genes included in this duplicated region (only one OMIM gene with dominant inheritance), this report provides further delineation of the phenotype related to duplications encompassing the entire <jats:italic>SOX10<\/jats:italic> gene.<\/jats:p>","DOI":"10.1002\/ajmg.a.63362","type":"journal-article","created":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T05:54:43Z","timestamp":1691042083000},"page":"2813-2818","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A 22q13.1 duplication in mosaicism including <i>SOX10<\/i>"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0178-0582","authenticated-orcid":false,"given":"William","family":"Bertani\u2010Torres","sequence":"first","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"Embryologie et g\u00e9n\u00e9tique des malformations, Institut Imagine, INSERM U1163  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1165-0872","authenticated-orcid":false,"given":"Margaux","family":"Serey\u2010Gaut","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker  Paris France"},{"name":"Centre de R\u00e9f\u00e9rence Surdit\u00e9s G\u00e9n\u00e9tiques AP\u2010HP, H\u00f4pital Necker  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judite","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Bole","sequence":"additional","affiliation":[{"name":"Genomics Core Facility Institut Imagine\u2010Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM U1163 et INSERM US24\/CNRS UAR3633, Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e9lanie","family":"Parisot","sequence":"additional","affiliation":[{"name":"Genomics Core Facility Institut Imagine\u2010Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM U1163 et INSERM US24\/CNRS UAR3633, Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Nistschk\u00e9","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"Bioinformatics Platform, Institut Imagine, INSERM U1163  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Laure","family":"Maurin","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Michel","family":"Lapierre","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalie","family":"Loundon","sequence":"additional","affiliation":[{"name":"ENT Department AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kahina","family":"Belhous","sequence":"additional","affiliation":[{"name":"Department of Radiology AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1531-1544","authenticated-orcid":false,"given":"Nad\u00e8ge","family":"Bondurand","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"Embryologie et g\u00e9n\u00e9tique des malformations, Institut Imagine, INSERM U1163  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4115-9806","authenticated-orcid":false,"given":"Sandrine","family":"Marlin","sequence":"additional","affiliation":[{"name":"Embryologie et g\u00e9n\u00e9tique des malformations, Institut Imagine, INSERM U1163  Paris France"},{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker  Paris France"},{"name":"Centre de R\u00e9f\u00e9rence Surdit\u00e9s G\u00e9n\u00e9tiques AP\u2010HP, H\u00f4pital Necker  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7064-0765","authenticated-orcid":false,"given":"V\u00e9ronique","family":"Pingault","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"Embryologie et g\u00e9n\u00e9tique des malformations, Institut Imagine, INSERM U1163  Paris France"},{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics11081379"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000342188"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/522090"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A3367"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38109"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1322"},{"issue":"1","key":"e_1_2_9_8_1","first-page":"19","article-title":"Partial trisomy due to a de novo duplication 22q11.1\u201022q13.1: A cat\u2010eye syndrome variant with brain anomalies","volume":"21","author":"Karcaaltincaba D.","year":"2010","journal-title":"Genetic Counseling"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.024"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-171"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21211"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108105"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp520"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32326"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.656"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20630"}],"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.63362","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T11:06:40Z","timestamp":1699873600000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63362"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,2]]},"references-count":15,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/ajmg.a.63362"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63362","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2023,8,2]]},"assertion":[{"value":"2023-05-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}