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Dimitre R. Simeonov, Xinjing Wang, Chen Wang, Yuri Sergeev, Monika Dolinska, Matthew Bower, Roxanne Fischer, David Winer, Genia Dubrovsky, Joan Z. Balog, Marjan Huizing, Rachel Hart, Wadih M. Zein, William A. Gahl, Brian P. Brooks and David R. Adams DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics Human Mutation 34

Version of Record online: 30 APR 2013 | DOI: 10.1002/humu.22315

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Isolated oculocutaneous albinism (OCA) is an autosomal recessive condition causing low vision and hypopigmentation. The article provides a mutation update for the OCA genes and discusses several challenging aspects of OCA molecular diagnostics, including the temperature sensitive TYR p.R402Q mutation, OCA-1 subtyping and the presence of a substantial minority of affected individuals with apparent missing heritability. A comprehensive list of previously reported mutations is provided as supplementary material, and includes collated ethnicity information, carrier frequencies, and in silico pathogenicity predictions.

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