Viswanathan Aravind, George Andrew M, Hathaway Evan R, Glatts Carlyn, Kalish Jennifer M
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Division of Development and Behavioral Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A. 2025 Nov;197(11):e64129. doi: 10.1002/ajmg.a.64129. Epub 2025 Jun 25.
Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder, anxiety, and increased rates of tantrums and aggressive behavior. Here, we introduce and phenotype a novel cohort of 25 patients with molecularly confirmed Sotos syndrome. We also present the detailed behavioral histories of two patients and provide guidance for managing the behavioral manifestations of Sotos syndrome, highlighting the importance of a multidisciplinary approach to care for patients with this complex overgrowth condition.
索托斯综合征是一种常染色体显性疾病，由5号染色体长臂35区（5q35）的NSD1基因的致病变异引起。其特征为巨体症、独特的面部特征和发育迟缓。据报道，患者还具有包括自闭症谱系障碍、注意力缺陷/多动障碍、焦虑以及发脾气和攻击性行为发生率增加在内的行为表型。在此，我们介绍并描述了一组经分子确诊的25例索托斯综合征患者的表型。我们还展示了两名患者详细的行为病史，并为管理索托斯综合征的行为表现提供指导，强调了多学科护理方法对于患有这种复杂过度生长疾病的患者的重要性。
