{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:23:30Z","timestamp":1791271410756,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,9,8]],"date-time":"2016-09-08T00:00:00Z","timestamp":1473292800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda","doi-asserted-by":"publisher","award":["169352"],"award-info":[{"award-number":["169352"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by <jats:italic>MITF<\/jats:italic> mutations. Tietz syndrome is inherited in an autosomal dominant pattern and is characterized by congenital deafness and generalized skin, hair, and eye hypopigmentation, while Waardenburg syndrome type 2A typically includes variable degrees of sensorineural hearing loss and patches of de\u2010pigmented skin, hair, and irides. In this paper, we report two unrelated families with <jats:italic>MITF<\/jats:italic> mutations. The first family showed an autosomal dominant pattern and variable expressivity. The second patient was isolated. <jats:italic>MITF<\/jats:italic> gene analysis in the first family demonstrated a c.648A&gt;C heterozygous mutation in exon 8 c.648A&gt;C; p. (R216S), while in the isolated patient, an apparently de novo heterozygous c.1183_1184insG truncating mutation was demonstrated in exon 10. All patients except one had bilateral reduced ocular anteroposterior axial length and a high hyperopic refractive error corresponding to posterior microphthalmos, features that have not been described as part of the disease. Our results suggest that posterior microphthalmos might be part of the clinical characteristics of Tietz\/Waardenburg syndrome type 2A and expand both the clinical and molecular spectrum of the disease. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37937","type":"journal-article","created":{"date-parts":[[2016,9,8]],"date-time":"2016-09-08T12:09:57Z","timestamp":1473336597000},"page":"3294-3297","source":"Crossref","is-referenced-by-count":10,"title":["Tietz\/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel <i>MITF<\/i> gene mutations"],"prefix":"10.1002","volume":"170","author":[{"given":"Vianney","family":"Cort\u00e9s\u2010Gonz\u00e1lez","sequence":"first","affiliation":[{"name":"Department of Genetics Hospital \u201cDr. Luis S\u00e1nchez Bulnes\u201d Asociaci\u00f3n para Evitar la Ceguera en M\u00e9xico Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Carlos","family":"Zenteno","sequence":"additional","affiliation":[{"name":"Department of Biochemistry National Autonomous University of Mexico Mexico City Mexico"},{"name":"Research Unit and Genetics Department Institute of Ophthalmology \u201cConde de Valenciana\u201d Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mart\u00edn","family":"Guzm\u00e1n\u2010S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Ophthalmology Hospital \u201cDr. Luis S\u00e1nchez Bulnes\u201d, Asociaci\u00f3n para Evitar la Ceguera en M\u00e9xico Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ver\u00f3nica","family":"Giordano\u2010Herrera","sequence":"additional","affiliation":[{"name":"Department of Retina Hospital \u201cDr. Luis S\u00e1nchez Bulnes\u201d, Asociaci\u00f3n para Evitar la Ceguera en M\u00e9xico Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalia","family":"Guadarrama\u2010Vallejo","sequence":"additional","affiliation":[{"name":"Research Unit and Genetics Department Institute of Ophthalmology \u201cConde de Valenciana\u201d Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narlly","family":"Ru\u00edz\u2010Quintero","sequence":"additional","affiliation":[{"name":"Department of Cornea Hospital \u201cDr. Luis S\u00e1nchez Bulnes\u201d, Asociaci\u00f3n para Evitar la Ceguera en M\u00e9xico Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Villanueva\u2010Mendoza","sequence":"additional","affiliation":[{"name":"Department of Genetics Hospital \u201cDr. Luis S\u00e1nchez Bulnes\u201d Asociaci\u00f3n para Evitar la Ceguera en M\u00e9xico Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,9,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199801000-00003"},{"key":"e_1_2_7_3_1","first-page":"41","volume-title":"Basic and clinical science course","author":"Chalam KV","year":"2012"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780195326147.003.0004"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1985.01050060045020"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01010.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(01)00996-4"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810802258862"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.234"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2012.08.016"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10193"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21211"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2415-12-12"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2015.206"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.446"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2010.00769.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.11.2131"},{"key":"e_1_2_7_18_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":"Am J Hum Genet"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2007.01.051"},{"key":"e_1_2_7_20_1","first-page":"3","article-title":"Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: Implications for molecular genetic diagnostics","volume":"18","author":"Wildhardt G","year":"2013","journal-title":"BMJ Open"}],"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.37937","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37937","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37937","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:42:13Z","timestamp":1696642933000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37937"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,8]]},"references-count":19,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1002\/ajmg.a.37937"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37937","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,8]]}}}