Faravelli Francesca
Department of Human Genetics of Galliera Hospital, Genoa, Italy.
Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):24-31. doi: 10.1002/ajmg.c.30061.
Sotos syndrome is a genetic disorder characterized by a typical facial appearance, macrocephaly, accelerated growth, developmental delay, and a variable range of associated abnormalities. The NSD1 gene was recently found to be responsible for Sotos syndrome, and more than 150 patients with NSD1 alterations have been identified. A significant ethnic difference is found in the prevalence of different types of mutation, with a high percentage of microdeletions identified in Japanese Sotos syndrome patients and with intragenic mutations in most non-Japanese patients. NSD1 aberrations are rather specific for Sotos syndrome, but have also been detected in patients lacking one or more major criteria of the disorder, namely overgrowth, macrocephaly, and advanced bone age. Thus, new diagnostic criteria should be considered. Studies have reported different frequencies of mutations versus non-mutations in Sotos syndrome, thus indicating allelic or locus hetereogeneity. Although some authors have suggested genotype/phenotype correlations, further studies are needed.
索托斯综合征是一种遗传性疾病，其特征为典型的面部外观、巨头畸形、生长加速、发育迟缓以及一系列相关的异常表现。最近发现NSD1基因与索托斯综合征有关，已鉴定出150多名NSD1基因改变的患者。在不同类型突变的患病率上发现了显著的种族差异，日本索托斯综合征患者中微缺失的比例较高，而大多数非日本患者中存在基因内突变。NSD1畸变对索托斯综合征具有相当的特异性，但在缺乏该疾病一项或多项主要标准（即生长过速、巨头畸形和骨龄提前）的患者中也有发现。因此，应考虑新的诊断标准。研究报告了索托斯综合征中突变与非突变的不同频率，从而表明存在等位基因或位点异质性。尽管一些作者提出了基因型/表型相关性，但仍需要进一步研究。
