Ferré Marc, Amati-Bonneau Patrizia, Tourmen Yves, Malthièry Yves, Reynier Pascal
INSERM-E0018, Laboratoire de Biochimie et Biologie Moléculaire, CHU Angers, France.
Hum Mutat. 2005 May;25(5):423-8. doi: 10.1002/humu.20161.
Autosomal dominant optic atrophy (ADOA), also known as Kjer disease, is characterized by moderate to severe loss of visual acuity with an insidious onset in early childhood, blue-yellow dyschromatopsia, and central scotoma. An optic atrophy gene, called OPA1, has been identified in most cases of the disease. A total of 83 OPA1 mutations, often family-specific, have been reported so far, and the observations support the hypothesis that haploinsufficiency and the functional loss of a single allele may lead to ADOA. We have developed a new locus-specific database (LSDB), eOPA1 (http://lbbma.univ-angers.fr/eOPA1/) aimed at collecting published and unpublished sequence variations in OPA1. The database has been designed to incorporate new submissions rapidly and will provide a secured online catalog of OPA1 mutations and nonpathogenic sequence variants (NPSVs). The LSDB should prove useful for molecular diagnosis, large-scale mutation statistics, and the determination of original genotype-phenotype correlations in studies on ADOA.
常染色体显性遗传性视神经萎缩（ADOA），也称为凯尔病，其特征为视力在幼儿期隐匿起病，出现中度至重度下降、蓝黄色色盲及中心暗点。在该病的大多数病例中已鉴定出一种名为OPA1的视神经萎缩基因。到目前为止，共报道了83种OPA1突变，这些突变通常具有家族特异性，这些观察结果支持单倍剂量不足及单个等位基因功能丧失可能导致ADOA的假说。我们开发了一个新的位点特异性数据库（LSDB），即eOPA1（http://lbbma.univ-angers.fr/eOPA1/），旨在收集已发表和未发表的OPA1序列变异。该数据库旨在快速纳入新提交的数据，并将提供OPA1突变和非致病性序列变异（NPSV）的安全在线目录。该LSDB对于分子诊断、大规模突变统计以及ADOA研究中原发性基因型-表型相关性的确定应是有用的。
