Molecular basis of oculocutaneous albinism type 1 in Lebanese patients

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dc.contributor.author Zahed, Laila
dc.contributor.author Zahreddine, Hala
dc.contributor.author Noureddine, Baha'
dc.contributor.author Rebeiz, Nelly
dc.contributor.author Shakar, Nadine
dc.contributor.author Zalloua, Pierre
dc.contributor.author Haddad, Fadi
dc.date.accessioned 2019-07-19T10:41:22Z
dc.date.available 2019-07-19T10:41:22Z
dc.date.copyright 2005 en_US
dc.date.issued 2019-07-19
dc.identifier.issn 1435-232X en_US
dc.identifier.uri http://hdl.handle.net/10725/11095
dc.description.abstract Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme. A large number of mutations have been identified worldwide, providing insight into the pathogenesis of the disorder. We performed ophthalmic and dermatological exams on 30 Lebanese subjects with oculocutaneous albinism, then screened for mutations in the tyrosinase gene in an effort to establish the molecular basis of the disorder in our population and correlate it with phenotypic findings. The five exons of the gene together with the exon–intron boundaries and part of the promoter region were sequenced. Mutations were found in a total of 14 patients (47%) while no mutation was identified in the sequenced regions in 53% of patients. Fourteen different mutations were identified of which eight were novel while six had been previously reported. Mutations were mainly seen in patients with clinical findings, suggestive of OCA1A (64% of patients with OCA1A versus 25% of patients with OCA1B); therefore, the absence of mutations in some of the other patients may indicate the involvement of other genes. en_US
dc.language.iso en en_US
dc.title Molecular basis of oculocutaneous albinism type 1 in Lebanese patients en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SOM en_US
dc.author.idnumber 20030001 en_US
dc.author.department N/A en_US
dc.description.embargo N/A en_US
dc.relation.journal Journal of Human Genetics en_US
dc.journal.volume 50 en_US
dc.journal.issue 6 en_US
dc.article.pages 317-319 en_US
dc.keywords OCA1 en_US
dc.keywords Tyrosinase gene mutations en_US
dc.keywords Lebanon en_US
dc.identifier.ctation Zahed, L., Zahreddine, H., Rebeiz, N., Shakar, N., Zalloua, P., & Haddad, F. (2005). Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. Journal of human genetics, 50(6), 317-319. en_US
dc.author.email pierre.zalloua@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url https://link.springer.com/article/10.1007/s10038-005-0257-5 en_US
dc.orcid.id https://orcid.org/0000-0002-8494-5081 en_US
dc.author.affiliation Lebanese American University en_US

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