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WS1 is caused by mutations in paired box gene 3 (<jats:italic>PAX3<\/jats:italic>). We identified a novel <jats:italic>PAX3<\/jats:italic> mutation (c.1107 C&gt;G, p.Ser369Arg) in a Japanese WS1 patient showing abnormal right iris pigmentation, right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism.<\/jats:p>","DOI":"10.1038\/hgv.2016.5","type":"journal-article","created":{"date-parts":[[2016,3,3]],"date-time":"2016-03-03T06:15:12Z","timestamp":1456985712000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1"],"prefix":"10.1038","volume":"3","author":[{"given":"Yu","family":"Yoshida","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rieko","family":"Doi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaori","family":"Adachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Nanba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isamu","family":"Kodani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuo","family":"Ryoke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,3,3]]},"reference":[{"key":"BFhgv20165_CR1","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1038\/355637a0","volume":"355","author":"CT Baldwin","year":"1992","unstructured":"Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A . An exonic mutation in the HuP2 paired domain gene causes Waardenburg\u2019s syndrome. Nature 1992; 355: 637\u2013638.","journal-title":"Nature"},{"key":"BFhgv20165_CR2","first-page":"455","volume":"52","author":"CF Hoth","year":"1993","unstructured":"Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT . Mutation in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome(WS-III) as well as Waardenburg syndrome Type-I(WS-I). Am J Hum Genet 1993; 52: 455\u2013462.","journal-title":"Am J Hum Genet"},{"key":"BFhgv20165_CR3","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1136\/jmg.34.8.656","volume":"34","author":"AP Read","year":"1997","unstructured":"Read AP, Newton VE . Waardenburg syndrome. J Med Genet 1997; 34: 656\u2013665.","journal-title":"J Med Genet"},{"key":"BFhgv20165_CR4","first-page":"902","volume":"50","author":"LA Farrer","year":"1992","unstructured":"Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH Jr, Beighton P et al. 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Nat Methods 2014; 11: 361\u2013362.","journal-title":"Nat Methods"},{"key":"BFhgv20165_CR9","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1002\/ajmg.1320580205","volume":"58","author":"CT Baldwin","year":"1995","unstructured":"Baldwin CT, Hoth CF, Macina RA, Milunsky A . Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature. Am J Med Genet A 1995; 58: 115\u2013122.","journal-title":"Am J Med Genet A"},{"key":"BFhgv20165_CR10","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1136\/jmg.35.3.248","volume":"35","author":"ML Carey","year":"1998","unstructured":"Carey ML, Friedman TB, Asher JH Jr, Innis JW . Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. 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Int J Pediatr Otorhinolaryngol 2015; 79: 1736\u20131740.","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"BFhgv20165_CR13","doi-asserted-by":"publisher","first-page":"e001917","DOI":"10.1136\/bmjopen-2012-001917","volume":"3","author":"G Wildhardt","year":"2013","unstructured":"Wildhardt G, Zirn B, Graul-Neumann LM, Wechtenbruch J, Suckf\u00fcll M, Buske A et al. Spectrum of novel mutations found in Waardenburg syndrome type1 and 2: Implications for molecular genetic diagnosis. BMJ Open 2013; 3: e001917.","journal-title":"BMJ Open"},{"key":"BFhgv20165_CR14","doi-asserted-by":"publisher","first-page":"1026","DOI":"10.1002\/ajmg.a.32189","volume":"146A","author":"ML Tamayo","year":"2008","unstructured":"Tamayo ML, Gelvez N, Rodriguez M, Florez S, Varon C, Medina D et al. Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability. 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