Department of Ophthalmology and Visual Science, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Jpn J Ophthalmol. 2012 Jan;56(1):98-103. doi: 10.1007/s10384-011-0098-z. Epub 2011 Nov 1.
To perform molecular analysis of five Korean patients with oculocutaneous albinism (OCA) and review the clinical and genetic characteristics of 21 Korean OCA patients.
TYR, OCA2 and SLC45A2 were analyzed by direct DNA sequencing in five unrelated OCA patients who received thorough ophthalmic evaluation.
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.
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.
对 5 名韩裔眼皮肤白化病（OCA）患者进行分子分析，并回顾 21 名韩裔 OCA 患者的临床和遗传特征。
对 5 名接受全面眼科评估的无亲缘关系的 OCA 患者进行直接 DNA 测序，分析 TYR、OCA2 和 SLC45A2。
我们在 3 名患者中发现了 3 种不同的 TYR 突变（c.929dupC、R278X 和 R52I），其中后两种突变此前已在其他人群中报道过，但这是首次在韩国人群中报道。在一名患者中，我们发现了 OCA2 的两种不同突变[c.1784+1G>A 和 c.1842G>T（K614N）]。一名患者通过检测到 2 种 SLC45A2 突变[c.469G>A（D157N）和 c.686G>A（C229Y）]被确诊为 OCA4。21 名韩裔白化病患者中最常见的亚型是 OCA1A（66.7%），70%的患者为 2 种不同突变等位基因的杂合子。c.929dupC（54.8%）和 R77Q（16.1%）是韩国人群中 TYR 最常见的突变等位基因。
在韩国 OCA 患者的突变谱中增加了 TYR 基因的 3 种突变等位基因 R278X 和 R52I 以及 SLC45A2 基因的 C229Y，我们报告了首例韩国 OCA2 患者的 OCA2 基因突变。
