{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:53:29Z","timestamp":1790967209548,"version":"4.1.0"},"reference-count":10,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2000,8,15]]},"published-print":{"date-parts":[[2001,1,1]]},"abstract":"<jats:p>We report a patient with an undetermined leucodystrophy associated with type 1A oculocutaneous albinism (OCA). Type 1 OCA results from recessive mutations in the tyrosinase gene (<jats:italic>TYR<\/jats:italic>) located in 11q14.3. The patient was found by FISH to carry a deletion of at least the first exon of the<jats:italic>TYR<\/jats:italic> gene on one chromosome and a (TG) deletion at codon 244\/245 on the second chromosome. The existence of the microdeletion suggested that a gene responsible for leucodystrophy was located in the vicinity of the <jats:italic>TYR<\/jats:italic> gene. A combination of a test of hemizygosity and contig mapping studies allowed us to map the gene within a 0.6 cM region flanked by microsatellite markers D11S1780 and D11S931.<\/jats:p>","DOI":"10.1136\/jmg.38.1.35","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:38:40Z","timestamp":1027751920000},"page":"35-38","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":18,"title":["Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion"],"prefix":"10.1136","volume":"38","author":[{"given":"Isabelle","family":"Coupry","sequence":"first","affiliation":[{"name":"aLaboratoire de Pathologie Mol\u00e9culaire et Th\u00e9rapie G\u00e9nique, Universit\u00e9 Victor Segalen Bordeaux 2, 146 Rue L\u00e9o Saignat, 33076 Bordeaux Cedex, France, \n\nbService de G\u00e9n\u00e9tique M\u00e9dicale, CHU Bordeaux, France, \n\ncService d'Ophtalmologie, CHU Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Taine","sequence":"additional","affiliation":[{"name":"aLaboratoire de Pathologie Mol\u00e9culaire et Th\u00e9rapie G\u00e9nique, Universit\u00e9 Victor Segalen Bordeaux 2, 146 Rue L\u00e9o Saignat, 33076 Bordeaux Cedex, France, \n\nbService de G\u00e9n\u00e9tique M\u00e9dicale, CHU Bordeaux, France, \n\ncService d'Ophtalmologie, CHU Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Goizet","sequence":"additional","affiliation":[{"name":"aLaboratoire de Pathologie Mol\u00e9culaire et Th\u00e9rapie G\u00e9nique, Universit\u00e9 Victor Segalen Bordeaux 2, 146 Rue L\u00e9o Saignat, 33076 Bordeaux Cedex, France, \n\nbService de G\u00e9n\u00e9tique M\u00e9dicale, CHU Bordeaux, France, \n\ncService d'Ophtalmologie, CHU Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carine","family":"Soriano","sequence":"additional","affiliation":[{"name":"aLaboratoire de Pathologie Mol\u00e9culaire et Th\u00e9rapie G\u00e9nique, Universit\u00e9 Victor Segalen Bordeaux 2, 146 Rue L\u00e9o Saignat, 33076 Bordeaux Cedex, France, \n\nbService de G\u00e9n\u00e9tique M\u00e9dicale, CHU Bordeaux, France, \n\ncService d'Ophtalmologie, CHU Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Mortemousque","sequence":"additional","affiliation":[{"name":"aLaboratoire de Pathologie Mol\u00e9culaire et Th\u00e9rapie G\u00e9nique, Universit\u00e9 Victor Segalen Bordeaux 2, 146 Rue L\u00e9o Saignat, 33076 Bordeaux Cedex, France, \n\nbService de G\u00e9n\u00e9tique M\u00e9dicale, CHU Bordeaux, France, \n\ncService d'Ophtalmologie, CHU Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beno\u00eet","family":"Arveiler","sequence":"additional","affiliation":[{"name":"aLaboratoire de Pathologie Mol\u00e9culaire et Th\u00e9rapie G\u00e9nique, Universit\u00e9 Victor Segalen Bordeaux 2, 146 Rue L\u00e9o Saignat, 33076 Bordeaux Cedex, France, \n\nbService de G\u00e9n\u00e9tique M\u00e9dicale, CHU Bordeaux, France, \n\ncService d'Ophtalmologie, CHU Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Lacombe","sequence":"additional","affiliation":[{"name":"aLaboratoire de Pathologie Mol\u00e9culaire et Th\u00e9rapie G\u00e9nique, Universit\u00e9 Victor Segalen Bordeaux 2, 146 Rue L\u00e9o Saignat, 33076 Bordeaux Cedex, France, \n\nbService de G\u00e9n\u00e9tique M\u00e9dicale, CHU Bordeaux, France, \n\ncService d'Ophtalmologie, CHU Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2001,1,1]]},"reference":[{"key":"2025101800215798000_38.1.35.1","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1055\/s-2007-973797","article-title":"Disorders of the cerebral white matter in children. 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