Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome
复制标题
中国赫曼斯基-普拉克综合征患者的 BLOC-2 和 BLOC-3 不稳定
DOI：
10.1111/pcmr.12748
复制
发表时间：
2018
影响因子：
4.3
通讯作者：
Li Wei
中科院分区：
文献类型：
--
作者：
Wei Aihua;Yuan Yefeng;Qi Zhan;Liu Teng;Bai Dayong;Zhang Yingzi;Yu Jiaying;Yang Lin;Yang Xiumin;Li Wei
赫曼斯基-普德拉克综合征（HPS）是一种罕见的隐性疾病，其特征是眼皮肤白化病（OCA）或眼白化病（OA）、出血倾向以及由于组织特异性溶酶体相关细胞器的多重缺陷而导致的其他症状。十种 HPS 亚型的特点是 HPS1 至 HPS10 突变，编码 BLOC-1、-2、-3 和 AP-3 亚基。使用下一代测序 (NGS)，我们在 OCA 或 OA 患者中筛查了 100 个色素减退基因，并鉴定了 4 个 HPS-1、1 个 HPS-3、1 个 HPS-4、1 个 HPS-5 和 3 个 HPS-6。 HPS-4病例是中国人群中的首例报告。在这20个突变等位基因中，16个是以前未报告的等位基因（6个在HPS1，1个在HPS3，2个在HPS4，2个在HPS5，5个在HPS6）。 BLOC-2和BLOC-3由于这些HPS基因的突变而不稳定，这是迄今为止唯一报道的中国HPS患者的致病基因，其中HPS-1和HPS-6是最常见的亚型。中国HPS的突变谱具有人群特异性。
Hermansky‐Pudlak syndrome (HPS) is a rare recessive disorder characterized by oculocutaneous albinism (OCA) or ocular albinism (OA), bleeding tendency, and other symptoms due to multiple defects in tissue‐specific lysosome‐related organelles. Ten HPS subtypes have been characterized with mutations inHPS1toHPS10, which encode the subunits of BLOC‐1, ‐2, ‐3, and AP‐3. Using next‐generation sequencing (NGS), we have screened 100 hypopigmentation genes in OCA or OA patients and identified four HPS‐1, one HPS‐3, one HPS‐4, one HPS‐5, and three HPS‐6. The HPS‐4 case is the first report in the Chinese population. Among these 20 mutational alleles, 16 were previously unreported alleles (6 inHPS1,1 inHPS3,2 inHPS4,2 inHPS5,and 5 inHPS6). BLOC‐2 and BLOC‐3 were destabilized due to the mutation of these HPS genes which are so far the only reported causative genes in Chinese HPS patients, in which HPS‐1 and HPS‐6 are the most common subtypes. The mutational spectrum of Chinese HPS is population specific.