Department of Pediatrics, Seoul National University Children's Hospital, Seoul 110-769, Republic of Korea.
Mol Med Rep. 2012 Apr;5(4):943-8. doi: 10.3892/mmr.2012.764. Epub 2012 Jan 25.
Oculocutaneous albinism (OCA) is a group of inherited disorders characterized by defective melanin biosynthesis. OCA1, the most common and severe form, is caused by mutations in the tyrosinase (TYR) gene. OCA4, caused by mutations in the SLC45A2 gene, has frequently been reported in the Japanese population. To determine the mutational spectrum in Korean OCA patients, 12 patients were recruited. The samples were first screened for TYR mutations, and negative samples were screened for SLC45A2 mutations. OCA1 was confirmed in 8 of 12 (66.7%) patients, and OCA4 was diagnosed in 1 (8.3%) patient. In the OCA1 patients, a total of 6 distinct TYR mutations were found in 15 of 16 (93.8%) alleles, all of which had been previously reported. Out of the 6 alleles, c.929insC was the most frequently detected (31.3%), and was mainly associated with OCA1A phenotypes. Other TYR mutations identified included c.1037-7T>A/c.1037-10delTT, p.D383N, p.R77Q and p.R299H. These largely overlapped with mutations found in Japanese and Chinese patients. The SLC45A2 gene analysis identified 1 novel mutation, p.D93N, in 1 patient. This study has provided information on the mutation spectrum in Korean OCA patients, and allows us to estimate the relative frequencies of OCA1 and OCA4 in Korea.
眼皮肤白化病（OCA）是一组以黑色素生物合成缺陷为特征的遗传性疾病。OCA1 是最常见和最严重的形式，由酪氨酸酶（TYR）基因的突变引起。OCA4 是由 SLC45A2 基因突变引起的，在日本人群中经常报道。为了确定韩国 OCA 患者的突变谱，招募了 12 名患者。首先对 TYR 突变进行了样本筛选，对阴性样本进行了 SLC45A2 突变筛选。在 12 名患者中，8 名（66.7%）被确诊为 OCA1，1 名（8.3%）被诊断为 OCA4。在 OCA1 患者中，在 16 个等位基因中的 15 个（93.8%）中发现了总共 6 种不同的 TYR 突变，所有这些突变均已被先前报道过。在 6 个等位基因中，c.929insC 是最常检测到的（31.3%），主要与 OCA1A 表型相关。其他鉴定出的 TYR 突变包括 c.1037-7T>A/c.1037-10delTT、p.D383N、p.R77Q 和 p.R299H。这些突变与日本和中国患者的突变大部分重叠。SLC45A2 基因分析在 1 名患者中发现了 1 种新的突变，p.D93N。本研究提供了韩国 OCA 患者突变谱的信息，并使我们能够估计 OCA1 和 OCA4 在韩国的相对频率。
