Yoshida K, Furihata K, Takeda S, Nakamura A, Yamamoto K, Morita H, Hiyamuta S, Ikeda S, Shimizu N, Yanagisawa N
Department of Medicine (Neurology), Shinshu University School of Medicine, Matsumoto, Japan.
Nat Genet. 1995 Mar;9(3):267-72. doi: 10.1038/ng0395-267.
We identified a mutation in the ceruloplasmin (Cp) gene in a Japanese family with aceruloplasminemia, some of whose members showed extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus. A post-mortem study of the proband revealed excessive iron deposition mainly in the brain, liver and pancreas. The G to A transition at the splice acceptor site introduces a premature termination codon at the amino acid position 991 by defective splicing, thereby truncating the carboxyl terminus of Cp in affected individuals. We conclude that the mutation in the Cp gene is associated with systemic hemosiderosis in humans.
我们在一个患有无铜蓝蛋白血症的日本家族中鉴定出了铜蓝蛋白（Cp）基因的一个突变，该家族的一些成员表现出锥体外系疾病、小脑共济失调和糖尿病。对先证者的尸检研究显示，过量的铁沉积主要在脑、肝和胰腺。剪接受体位点的G到A转换通过缺陷剪接在氨基酸位置991处引入了一个过早的终止密码子，从而在受影响个体中截断了Cp的羧基末端。我们得出结论，Cp基因中的突变与人类全身性含铁血黄素沉着症有关。
