Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy.
Clin Genet. 2012 Sep;82(3):277-82. doi: 10.1111/j.1399-0004.2011.01751.x. Epub 2011 Aug 15.
Optic atrophy type 1 (OPA1) gene mutation causes autosomal dominant optic atrophy (ADOA, MIM #165500). Prevalence of ADOA ranges from 1:50,000 in most populations to 1:12,000 in Denmark. Seventy members of nine families were analysed for the presence of OPA1 gene mutations by polymerase chain reaction (PCR) and direct sequencing. We identified three OPA1 gene mutations in 48 patients with variable signs of optic atrophy. Two mutations, c.784-21_784-22insAluYb8 and c.876_878delTGT, were found in two different families. The third mutation, c.869G>A, was found in 28 patients from seven families. The haplotype analysis data suggested that the c.869G>A mutation is a founder mutation. Our main result suggests a higher ADOA prevalence in south-eastern Sicily than previously found in Denmark. This is because of not only the founder effect but also to the presence of three different mutations in the geographical area of the study. Our hypothesis is that a combination of social pressure because of blindness and migration factors is involved. In fact, in Siracusa, a provincial capital in south-eastern Sicily, St. Lucy, the patron saint of the blind was born and died.
原发性视神经萎缩 1 型（OPA1）基因突变导致常染色体显性视神经萎缩（ADOA，MIM #165500）。ADOA 的患病率在大多数人群中从每 50,000 人中 1 例到丹麦的每 12,000 人 1 例不等。通过聚合酶链反应（PCR）和直接测序分析了来自九个家庭的 70 名成员是否存在 OPA1 基因突变。我们在 48 名具有不同程度视神经萎缩迹象的患者中发现了三种 OPA1 基因突变。两个突变，c.784-21_784-22insAluYb8 和 c.876_878delTGT，存在于两个不同的家庭中。第三个突变 c.869G>A 存在于来自七个家庭的 28 名患者中。单体型分析数据表明，c.869G>A 突变是一个创始突变。我们的主要结果表明，西西里岛东南部的 ADOA 患病率高于丹麦此前的发现。这不仅是由于创始效应，还因为在研究区域存在三种不同的突变。我们的假设是，失明带来的社会压力和移民因素的共同作用导致了这种情况。事实上，在西西里岛东南部的省会锡拉库萨，诞生并逝世了盲人的守护神圣卢西亚。
