PDF(Sci-hub)
Abstract：
Sotos syndrome is one of the most common overgrowth diseases and it predisposes patients to cancer, generally in childhood. The prevalence of this genetic disorder is 1:10,000⁻1:50,000, and it is characterized by wide allelic heterogeneity, with more than 100 different known mutations in the nuclear receptor-binding SET domain containing protein 1 (NSD1) gene. Most of these alterations are deletions and common micro-deletions with haploinsufficiency. Singular variants are missense mutations. The present study reports a case of a 4-year-old boy with specific clinical features of Sotos syndrome and a particular complex skin hamartoma on the right femoral side, in addition to other minor findings, such as a \"café-au-lait\" spot on the right hemithorax and syndactyly of the second and third right toes. NSD1 gene analysis identified a de novo missense mutation, \"c.[5867T>A]+[=]\"; \"p.[Leu1956Gln]+[=]\", that was not previously described in the literature. This mutation was localized to the functional domain of the gene and was likely the cause of Sotos syndrome in our patient. We also compared aspects of our patient\'s condition with the clinical features of tuberous sclerosis (TSC), which is an autosomal neurocutaneous syndrome caused by mutations in the TSC1/TSC2 genes. These genes control cell growth and cell survival. This disorder is characterized by hamartomas in multiple organ systems, several coetaneous abnormalities, epilepsy, and increased risk of several types of tumors.
摘要：
Sotos综合征是最常见的过度生长疾病之一，它使患者易患癌症，一般在童年。这种遗传性疾病的患病率为1:10,000-1:50,000，其特征是广泛的等位基因异质性，在含有蛋白质1（NSD1）的核受体结合SET结构域基因中具有超过100种不同的已知突变。这些改变中的大多数是缺失和具有单倍体不足的常见微缺失。奇异变异是错义突变。本研究报告了一个4岁男孩的病例，该男孩具有Sotos综合征的特定临床特征和右股骨侧的特殊复杂皮肤错构瘤，除了其他小发现，例如右半胸部的“café-au-lait”点和第二和第三右脚趾的连体。NSD1基因分析确定了从头错义突变，\"c.[5867T>A]+[=]\";\"p.[Leu1956Gln]+[=]\",这是以前文献中没有描述的。该突变位于该基因的功能域，可能是我们患者Sotos综合征的原因。我们还比较了患者病情的各个方面与结节性硬化症（TSC）的临床特征，这是一种由TSC1/TSC2基因突变引起的常染色体神经皮肤综合征。这些基因控制细胞生长和细胞存活。这种疾病的特征是多器官系统错构瘤，几个皮肤异常，癫痫,并增加了几种类型肿瘤的风险。
