Tanabe Fuminori, Kasai Hirotake, Morimoto Michiko, Oh Shigeharu, Takada Hidetoshi, Hara Toshiro, Ito Masahiko
Department of Human Science, Interdisciplinary Graduate School of Medicine and Engineering, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, Japan.
Case Rep Med. 2010;2010:464671. doi: 10.1155/2010/464671. Epub 2010 Dec 15.
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations of CHS1, the responsive gene of CHS, identified in five Japanese patients with CHS. Patients 1, 2, and 3 were siblings, and they had albinism of the skin and hair. They all had a heterogenous two-base deletion (c.5541-5542 del AA, p.Q1847fsX1850) in exon 18. Patient 4 had a heterogenous single-base insertion (c.3944-3945 ins C, p.T1315fsX1331) in exon 10. The patient exhibited severe early-onset phenotype and suffered from hemophagocytic lymphohistiocytosis. Patient 5 had two heterogenous nonsense mutations; c.7982C>G, p.S2661X in exon 30 and c.8281A>T, p.R2761X in exon 31. The patient suffered from infections in childhood and had visual disturbance and albinism of the skin and hair. The CHS1 mutations described here have not been reported previously.
切迪阿克-希加什综合征（CHS）是一种罕见的常染色体隐性疾病，其特征为眼皮肤白化病、反复细菌感染和进行性神经功能障碍。我们在5名日本CHS患者中发现了CHS的相关基因CHS1的新型异质性突变。患者1、2和3是兄弟姐妹，他们有皮肤和毛发白化病。他们在第18外显子均有一个异质性双碱基缺失（c.5541-5542 del AA，p.Q1847fsX1850）。患者4在第10外显子有一个异质性单碱基插入（c.3944-3945 ins C，p.T1315fsX1331）。该患者表现出严重的早发型表型，并患有噬血细胞性淋巴组织细胞增生症。患者5有两个异质性无义突变；第30外显子的c.7982C>G，p.S2661X和第31外显子的c.8281A>T，p.R2761X。该患者童年时曾感染，并有视力障碍以及皮肤和毛发白化病。此处描述的CHS1突变以前未曾报道过。
