Daraio F, Ryan E, Gleeson F, Roetto A, Crowe J, Camaschella C
Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, Azienda Ospedaliera San Luigi, Orbassano, Torino, Italy.
Blood Cells Mol Dis. 2005 Sep-Oct;35(2):174-6. doi: 10.1016/j.bcmd.2005.02.001.
Hemojuvelin (HJV) is a recently discovered gene responsible for 1q-linked juvenile hemochromatosis. The majority of mutations characterized in this gene are rare and private, except G320V, identified in patients from different countries. Here, we report the clinical features and the molecular study of a young Irish patient presenting with severe cardiac disease related to iron overload. We sequenced the coding region and the exon-intron boundaries of genes associated with juvenile hemochromatosis, HAMP and HJV encoding hepcidin and hemojuvelin respectively. Two heterozygous HJV mutations were identified: the G320V mutation and the new Q116X mutation that cause a premature stop codon in the protein. This finding increases the number of mutations identified in HJV gene and underlines that the G320V is a recurrent mutation, even in Northern Europe.
血色素沉着症相关蛋白（HJV）是最近发现的一个与1号染色体连锁的青少年血色素沉着症相关基因。该基因中已鉴定的大多数突变都是罕见的且为个体特有，不过在来自不同国家的患者中都发现了G320V突变。在此，我们报告一名患有与铁过载相关严重心脏疾病的年轻爱尔兰患者的临床特征及分子研究情况。我们对与青少年血色素沉着症相关的基因（分别编码铁调素的HAMP基因和编码血色素沉着症相关蛋白的HJV基因）的编码区及外显子-内含子边界进行了测序。鉴定出两个杂合的HJV突变：G320V突变和新的Q116X突变，后者会导致蛋白质中出现提前终止密码子。这一发现增加了HJV基因中已鉴定突变的数量，并强调即使在北欧，G320V也是一个反复出现的突变。
