Sotos syndrome is one of the overgrowth syndromes, and can present with intellectual disability, behavioral problems and tall stature. In some cases, seizures, pectus deformity, cardiac and renal anomalies may be identified. Here we report two Indian children with Sotos syndrome whose initial presentation was macrocephaly and behavioral problems, respectively. The pathogenic variants in NSD1 gene were confirmed by next generation sequencing. The gene variants in the two children, one male and one female; were NSD1: c.2362C>T and NSD1: c.5474dup, respectively, leading to premature termination of protein formation.

中文翻译：

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来自印度的两个孩子的索托斯综合症。

索托斯综合症是过度生长的综合症之一，可以表现为智力残疾，行为问题和身材高大。在某些情况下，可以识别出癫痫发作，眼底畸形，心脏和肾脏异常。在这里，我们报告了两名印度儿童索托斯综合征，其最初表现分别是大头畸形和行为问题。NSD1基因的致病变异已通过下一代测序得以证实。两个孩子，一男一女的基因变异；分别NSD1：c.2362C> T和NSD1：c.5474dup，分别，导致蛋白质形成过早终止。