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Pubmed ID :23504663
Publication Date : //

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.


Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Here we report 22 novel mutations in the OCA genes; 14 from a cohort of 61 patients seen as part of the NIH OCA Natural History Study and eight from a prior study at the University of Minnesota. We also include a comprehensive list of almost 600 previously reported OCA mutations along with ethnicity information, carrier frequencies, and in silico pathogenicity predictions as a supplement. In addition to discussing the clinical and molecular features of OCA, we address the cases of apparent missing heritability. In our cohort, 26% of patients did not have two mutations in a single OCA gene. We demonstrate the utility of multiple detection methods to reveal mutations missed by Sanger sequencing. Finally, we review the TYR p.R402Q temperature-sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation.

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 ,

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