DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics. Issue 6 (30th April 2013)

• Record Type: Journal Article
• Authors: Simeonov, Dimitre R.; Wang, Xinjing; Wang, Chen; Sergeev, Yuri; Dolinska, Monika; Bower, Matthew; Fischer, Roxanne; Winer, David; Dubrovsky, Genia; Balog, Joan Z.; Huizing, Marjan; Hart, Rachel; Zein, Wadih M.; Gahl, William A.; Brooks, Brian P.; Adams, David R.
• Is Part Of: Human mutation. Volume 34:Issue 6(2013:Jun.)
• Page Start: 827
• Page End: 835
• Publication Date: 2013-04-30
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22315
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22315-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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 <italic>in silico</italic> pathogenicity predictions. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg20pg57wm" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>