Katzaki Eleni, Pescucci Chiara, Uliana Vera, Papa Filomena Tiziana, Ariani Francesca, Meloni Ilaria, Priolo Manuela, Selicorni Angelo, Milani Donatella, Fischetto Rita, Celle Maria Elena, Grasso Rita, Dallapiccola Bruno, Brancati Francesco, Bordignon Marta, Tenconi Romano, Federico Antonio, Mari Francesca, Renieri Alessandra, Longo Ilaria
Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
Medical Genetics Hospital of Reggio Calabria, Reggio Calabria, Italy.
J Hum Genet. 2007;52(12):1011-1017. doi: 10.1007/s10038-007-0208-4. Epub 2007 Nov 8.
Cohen syndrome is an autosomal recessive disorder with variability in the clinical manifestations, characterized by developmental delay, visual disability, facial dysmorphisms and intermittent neutropenia. We described a cohort of 10 patients affected by Cohen syndrome from nine Italian families ranging from 5 to 52 years at assessment. Characteristic age related facial changes were well documented. Visual anomalies, namely retinopathy and myopia, were present in 9/10 patients (retinopathy in 9/10 and myopia in 8/10). Truncal obesity has been described in all patients older than 6 years (8/8). DNA samples from all patients were analyzed for mutations in COH1 by DHPLC. We detected 15 COH1 alterations most of them were truncating mutations, only one being a missense change. Partial gene deletions have been found in two families. Most mutations were private. Two were already reported in the literature just once. A single base deletion leading to p.T3708fs3769, never reported before, was found in three apparently unrelated families deriving from a restricted area of the Veneto's lowland, between Padova town and Tagliamento river, in heterozygous state. Given the geographical conformation of this region, which is neither geographically or culturally isolated, a recent origin of the mutation could be hypothesized.
科恩综合征是一种常染色体隐性疾病，临床表现具有变异性，其特征为发育迟缓、视力残疾、面部畸形和间歇性中性粒细胞减少。我们描述了一组来自9个意大利家庭的10例受科恩综合征影响的患者，评估时年龄在5至52岁之间。记录了与年龄相关的特征性面部变化。9/10的患者存在视觉异常，即视网膜病变和近视（9/10有视网膜病变，8/10有近视）。所有6岁以上的患者（8/8）均有躯干肥胖。通过变性高效液相色谱法（DHPLC）分析了所有患者的DNA样本中COH1的突变情况。我们检测到15种COH1改变，其中大多数是截短突变，只有一种是错义改变。在两个家庭中发现了部分基因缺失。大多数突变是私有的。有两种突变仅在文献中被报道过一次。在来自威尼托低地一个受限区域（位于帕多瓦镇和塔利亚门托河之间）的三个明显无亲缘关系的家庭中，发现了一个导致p.T3708fs3769的单碱基缺失，该突变以前从未被报道过，呈杂合状态。鉴于该地区的地理形态，其在地理和文化上都没有隔离，因此可以推测该突变有一个近期的起源。
