{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T12:02:27Z","timestamp":1770465747182,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T00:00:00Z","timestamp":1709510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004322","name":"Shiseido Group","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008040","name":"Kao Corporation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008040","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tietz albinism\u2010deafness syndrome (TADS) is a rare and severe manifestation of Waardenburg syndrome that is primarily linked to mutations in <jats:italic>MITF<\/jats:italic>. In this report, we present a case of TADS resulting from a novel c.637G&gt;C mutation in <jats:italic>MITF<\/jats:italic> (p.Glu213Gln; GenBank Accession number: NM_000248). A 3\u2010year\u2010old girl presented with congenital generalized hypopigmentation of the hair, skin, and irides along with complete sensorineural hearing loss. Histopathological and electron microscopy investigations indicated that this variant did not alter the number of melanocytes in the skin but significantly impaired melanosome maturation within melanocytes. Comprehensive melanin analysis revealed marked reductions in both eumelanin (EM) and pheomelanin (PM) rather than changes in the EM\u2010to\u2010PM ratio observed in oculocutaneous albinism. We conducted an electrophoretic mobility shift assay to investigate the binding capability of the identified variant to DNA sequences containing the E\u2010box motif along with other known variants (p.Arg217del and p.Glu213Asp). Remarkably, all three variants exhibited dominant\u2010negative effects, thus providing novel insights into the pathogenesis of TADS. This study sheds light on the genetic mechanisms underlying TADS and offers a deeper understanding of this rare condition and its associated mutations in <jats:italic>MITF<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/pcmr.13166","type":"journal-article","created":{"date-parts":[[2024,3,5]],"date-time":"2024-03-05T06:17:17Z","timestamp":1709619437000},"page":"430-437","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic insights into Tietz albinism\u2010deafness syndrome: A new dominant\u2010negative mutation in <i>MITF<\/i>"],"prefix":"10.1111","volume":"37","author":[{"given":"Kohei","family":"Yamamoto","sequence":"first","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine Yamagata University  Yamagata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7366-3233","authenticated-orcid":false,"given":"Ken","family":"Okamura","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine Yamagata University  Yamagata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1748-9001","authenticated-orcid":false,"given":"Kazumasa","family":"Wakamatsu","sequence":"additional","affiliation":[{"name":"Institute for Melanin Chemistry Fujita Health University  Toyoake Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9182-5144","authenticated-orcid":false,"given":"Shosuke","family":"Ito","sequence":"additional","affiliation":[{"name":"Institute for Melanin Chemistry Fujita Health University  Toyoake Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kozue","family":"Akabane","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medicine Yamagata University  Yamagata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yosuke","family":"Arai","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine Yamagata University  Yamagata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junnosuke","family":"Kawaguchi","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine Yamagata University  Yamagata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutaka","family":"Hozumi","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine Yamagata University  Yamagata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4669-9721","authenticated-orcid":false,"given":"Tamio","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine Yamagata University  Yamagata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41568\u2010023\u201000565\u20107"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt285"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.8.22.2770"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755\u2010148X.2011.00864.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2008.01010.x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.2017.9"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.234"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11624"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12662"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12800"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600\u20100749.1996.tb00116.x"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.13024"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.446"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.11.2131"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194\u2010251"},{"key":"e_1_2_9_17_1","first-page":"259","article-title":"A syndrome of deaf\u2010mutism associated with albinism showing dominant autosomal inheritance","volume":"15","author":"Tietz W.","year":"1963","journal-title":"American Journal of Human Genetics"},{"issue":"3","key":"e_1_2_9_18_1","first-page":"195","article-title":"A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness","volume":"3","author":"Waardenburg P. J.","year":"1951","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600\u20100749.2002.02009.x"}],"container-title":["Pigment Cell &amp; Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.13166","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T05:36:55Z","timestamp":1726724215000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.13166"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,4]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1111\/pcmr.13166"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.13166","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,4]]},"assertion":[{"value":"2023-12-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-26","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}