Article
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Human mutation - 1 Jun 2013
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
Abstract excerpt
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...
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