{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T20:45:32Z","timestamp":1790282732688,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,10,23]],"date-time":"2013-10-23T00:00:00Z","timestamp":1382486400000},"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 Melanoma Res"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Oculocutaneous albinism (<jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>) is caused by mutations in six different genes, and their molecular diagnosis encompasses the search for point mutations and intragenic rearrangements. Here, we used high\u2010resolution array\u2010comparative genome hybridization (CGH) to search for rearrangements across exons, introns and regulatory sequences of four <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content> genes: <jats:italic><jats:styled-content style=\"fixed-case\">TYR<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>2<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">TYRP<\/jats:styled-content>1<\/jats:italic>, and <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>45A2<\/jats:italic>. We identified a total of ten new deletions in <jats:italic><jats:styled-content style=\"fixed-case\">TYR<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>2<\/jats:italic>, and <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>45A2<\/jats:italic>. A complex rearrangement of <jats:italic><jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>2<\/jats:italic> was found in two unrelated patients. Whole\u2010genome sequencing showed deletion of a 184\u2010kb fragment (identical to a deletion previously found in Polish patients), whereby a large portion of the deleted sequence was re\u2010inserted after severe reshuffling into intron 1 of <jats:italic><jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>2<\/jats:italic>. The high\u2010resolution array\u2010<jats:styled-content style=\"fixed-case\">CGH<\/jats:styled-content> presented here is a powerful tool to detect gene rearrangements. Finally, we review all known deletions of the <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>1\u20134 genes reported so far in the literature and show that deletions or duplications account for 5.6% of all mutations identified in the <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>1\u20134 genes.<\/jats:p>","DOI":"10.1111\/pcmr.12173","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T01:36:26Z","timestamp":1381541786000},"page":"59-71","source":"Crossref","is-referenced-by-count":28,"title":["High\u2010resolution array\u2010<scp>CGH<\/scp> in patients with oculocutaneous albinism identifies new deletions of the <i><scp>TYR<\/scp>,<scp> OCA<\/scp>2<\/i>, and <i><scp>SLC<\/scp>45A2<\/i> genes and a complex rearrangement of the <i><scp>OCA<\/scp>2<\/i> gene"],"prefix":"10.1111","volume":"27","author":[{"given":"Fanny","family":"Morice\u2010Picard","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Bordeaux Bordeaux France"},{"name":"Maladies Rares: G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) EA4576 Univ. Bordeaux Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eulalie","family":"Lasseaux","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Bordeaux Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doroth\u00e9e","family":"Cailley","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Bordeaux Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Gros","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Bordeaux Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9rome","family":"Toutain","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Bordeaux Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Plaisant","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Bordeaux Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Simon","sequence":"additional","affiliation":[{"name":"Maladies Rares: G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) EA4576 Univ. 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