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Molecular analysis of Korean patients with oculocutaneous albinism

  • Laboratory Investigation
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Abstract

Purpose

To perform molecular analysis of five Korean patients with oculocutaneous albinism (OCA) and review the clinical and genetic characteristics of 21 Korean OCA patients.

Methods

TYR, OCA2 and SLC45A2 were analyzed by direct DNA sequencing in five unrelated OCA patients who received thorough ophthalmic evaluation.

Results

We identified three different TYR mutations in three patients (c.929dupC, R278X, and R52I), among which the latter two had been previously reported in other populations, but are reported here for the first time in a Korean context. In one patient we identified two different mutations of OCA2 [c.1784+1G>A and c.1842G>T (K614N)]. One patient was confirmed to have OCA4 by detecting two SLC45A2 mutations [c.469G>A (D157N) and c.686G>A (C229Y)]. OCA1A (66.7%) was the most common subtype in 21 Korean albinism patients, and 70% of patients were heterozygotes for 2 different mutational alleles. c.929dupC (54.8%) and R77Q (16.1%) were the most frequent mutational alleles of TYR in Koreans.

Conclusions

Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with OCA, and we report the first Korean case of OCA2 with the OCA2 gene mutations.

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Acknowledgments

This work was supported by the Korea Research Foundation Grant funded by the Korean Government (KRF-313-2008-2-E00521).

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Authors and Affiliations

  1. Department of Ophthalmology and Visual Science, College of Medicine, The Catholic University of Korea, Seoul, Korea

    Shin Hae Park

  2. Department of Laboratory Medicine and Catholic Genetic Laboratory Center, College of Medicine, The Catholic University of Korea, Seoul, Korea

    Hyojin Chae, Yonggoo Kim & Myungshin Kim

  3. Department of Laboratory Medicine, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul, 137-701, Korea

    Myungshin Kim

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  1. Shin Hae Park
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  2. Hyojin Chae
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  3. Yonggoo Kim
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Correspondence to Myungshin Kim.

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Park, S.H., Chae, H., Kim, Y. et al. Molecular analysis of Korean patients with oculocutaneous albinism. Jpn J Ophthalmol 56, 98–103 (2012). https://doi.org/10.1007/s10384-011-0098-z

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  • DOI: https://doi.org/10.1007/s10384-011-0098-z

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