{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:19:47Z","timestamp":1790705987298,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T00:00:00Z","timestamp":1601337600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Waardenburg syndrome subtypes 1 and 3 are caused by pathogenic variants in <jats:italic>PAX3<\/jats:italic>. We investigated 12 individuals from four unrelated families clinically diagnosed with Waardenburg syndrome type 1\/3. Novel pathogenic variants identified in <jats:italic>PAX3<\/jats:italic> included single nucleotide variants (c.166C&gt;T, c.829C&gt;T), a 2\u2010base pair deletion (c.366_367delAA) and a multi\u2010exonic deletion. Two novel variants, c.166C&gt;T and c.829C&gt;T and a previously reported variant, c.256A&gt;T in <jats:italic>PAX3<\/jats:italic> were evaluated for their nuclear localization and ability to activate <jats:italic>MITF<\/jats:italic> promoter. The coexistence of two subtypes of Waardenburg syndrome with pathogenic variants in <jats:italic>PAX3<\/jats:italic> and <jats:italic>EDNRB<\/jats:italic> was seen in one of the affected individuals. Multiple genetic diagnoses of Waardenburg syndrome type 3 and autosomal recessive deafness 1A was identified in an individual. We also review the phenotypic and genomic spectrum of individuals with <jats:italic>PAX3\u2010<\/jats:italic>related Waardenburg syndrome reported in the literature.<\/jats:p>","DOI":"10.1002\/ajmg.a.61893","type":"journal-article","created":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T12:02:02Z","timestamp":1601380922000},"page":"2951-2958","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Phenotypic diversity and genetic complexity of <scp><i>PAX3<\/i><\/scp>\u2010related Waardenburg syndrome"],"prefix":"10.1002","volume":"182","author":[{"given":"Puneeth H.","family":"Somashekar","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priyanka","family":"Upadhyai","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhanya L.","family":"Narayanan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nutan","family":"Kamath","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kasturba Medical College, Mangalore, Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shruti","family":"Bajaj","sequence":"additional","affiliation":[{"name":"Suchak Hospital  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0139-8239","authenticated-orcid":false,"given":"Katta M.","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2471-4094","authenticated-orcid":false,"given":"Anju","family":"Shukla","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MLG.0b013e31817fb7ad"},{"issue":"11","key":"e_1_2_9_3_1","doi-asserted-by":"crossref","first-page":"2984","DOI":"10.1021\/bi062107q","article-title":"Cooperative interactions between the two DNA binding domains of Pax3: Helix 2 of the paired domain is in the proximity of the amino terminus of the homeodomain","volume":"46","author":"Apuzzo S.","year":"2007","journal-title":"Biochemistry"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.01.012"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.13.1907"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2010.05.066"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn076"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2010.07.016"},{"issue":"5","key":"e_1_2_9_9_1","first-page":"902","article-title":"Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium","volume":"50","author":"Farrer L. 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