{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:32:30Z","timestamp":1791048750207,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,3,10]],"date-time":"2006-03-10T00:00:00Z","timestamp":1141948800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Research"],"published-print":{"date-parts":[[2006,6]]},"abstract":"Summary<\/jats:title>Non\u2010syndromic oculocutaneous albinism (OCA) is a clinically and genetically heterogeneous autosomal recessive disorder with mutations identified in several genes: OCA1 (tyrosinase, TYR<\/jats:italic>), OCA2 (OCA2<\/jats:italic>), OCA3 (tyrosinase\u2010related protein 1, TYRP1<\/jats:italic>), and OCA4 (membrane\u2010associated transporter protein, MATP<\/jats:italic>). OCA3 was thought to be restricted to black populations, where it was clinically described as rufous or brown albinism, until the recent report of a homozygous TYRP1<\/jats:italic> mutation in Caucasian patients from a consanguineous Pakistani family. Here, we describe a German patient of Caucasian origin, with a light\u2010yellow skin, yellow\u2010gold hair with orange highlights, fair eyelashes, several pigmented naevi, and no tendency to tan, only to burn. Eye\u2010colour is blue\u2010green with substance defects of the iris. Molecular analysis did not reveal any mutation in the TYR<\/jats:italic> and OCA2<\/jats:italic> genes. Two mutations were found in the TYRP1<\/jats:italic> gene: a missense mutation (c.1066G>A\/p.Arg356Glu) that was inherited from the mother, and a de novo<\/jats:italic> single\u2010base deletion (c.106delT\/p.Leu36X). This finding suggests that mutation screening should be extended to the TYRP1<\/jats:italic> gene in patients from all ethnic origins, at least in cases where no mutations have been identified in the other OCA genes.<\/jats:p>","DOI":"10.1111\/j.1600-0749.2006.00298.x","type":"journal-article","created":{"date-parts":[[2006,3,10]],"date-time":"2006-03-10T15:12:10Z","timestamp":1142003530000},"page":"239-242","source":"Crossref","is-referenced-by-count":66,"title":["Oculocutaneous albinism with TYRP1<\/i> gene mutations in a Caucasian patient"],"prefix":"10.1111","volume":"19","author":[{"given":"Caroline","family":"Rooryck","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Roudaut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eulalie","family":"Robine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f6rg","family":"M\u00fcsebeck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beno\u00eet","family":"Arveiler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,3,10]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"1145","article-title":"Mutation in and lack of expression of tyrosinase\u2010related protein\u20101 (TRP\u20101) in melanocytes from an individual with brown oculocutaneous albinism:\u00a0a new subtype of albinism classified as \u2018\u2018OCA3\u2019\u2019","volume":"58","author":"Boissy R. E.","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.11.1891"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.17.2531"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00460.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/382195"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00145.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/377569"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819009020984"},{"key":"e_1_2_4_10_1","first-page":"2047","article-title":"Diverse mutations of the P gene among African\u2010Americans with type II (tyrosinase\u2010positive) oculocutaneous albinism (OCA2)","volume":"3","author":"Lee S.T.","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/301603"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/318800"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/324340"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10311"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12319351"}],"container-title":["Pigment Cell Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1600-0749.2006.00298.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1600-0749.2006.00298.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T05:39:52Z","timestamp":1697002792000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1600-0749.2006.00298.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,3,10]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,6]]}},"alternative-id":["10.1111\/j.1600-0749.2006.00298.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1600-0749.2006.00298.x","archive":["Portico"],"relation":{},"ISSN":["0893-5785","1600-0749"],"issn-type":[{"value":"0893-5785","type":"print"},{"value":"1600-0749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,3,10]]}}}