中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (7): 536-540.DOI: 10.19538/j.ek2023070612

• 综述 • 上一篇    下一篇

Sotos综合征诊疗进展

  

  1. 复旦大学附属儿科医院神经科 国家儿童医学中心（上海），上海  201100
  • 出版日期:2023-07-06 发布日期:2023-08-29
  • 通讯作者: 周渊峰，电子信箱：yuanfengzhou99@163.com

Progress in the diagnosis and treatment of Sotos syndrome

  1. Department of Neurology，Children’s Hospital of Fudan University，National Children’s Medical Center，Shanghai  201100，China
  • Online:2023-07-06 Published:2023-08-29

摘要： Sotos综合征是一种先天性过度生长的常染色体显性遗传病，发病率约为1/14 000活产儿，主要表现为特殊面容、过度生长、骨龄提前，以及不同程度的发育迟缓。NSD1基因变异对Sotos综合征诊断具有高度特异性和敏感性，>90%患者可以检测到NSD1基因所在的5q35染色体微缺失或NSD1基因杂合致病性变异。不同种族患者中，微缺失或NSD1基因突变所占比例不同。对临床高度怀疑Sotos综合征的个体，进行NSD1基因序列分析和（或）靶基因内片段缺失或重复分析，对非典型Sotos综合征，推荐家系全外显子测序联合拷贝数变异进行遗传学检测。NSD1基因编码组蛋白赖氨酸N-甲基转移酶，在激活或抑制转录过程中发挥重要作用。该病与以过度生长为特征的疾病进行鉴别诊断，包括Weaver-Smith综合征、Cohen-Gibson综合征、Beckwith-Wiedemann综合征、脆性X综合征、马凡综合征等。遗传咨询需注意罕见嵌合体存在的可能。目前暂无临床试验，治疗以对症支持为主，大部分成年患者预后较好，生活可自理。

关键词: Sotos综合征, 过度生长, NSD1基因, 基因型与表型, 预后

Abstract: Sotos syndrome is an autosomal dominant genetic disorder characterized by congenital overgrowth，with an incidence of about 1 in 14，000 live births，characterized by specific facial appearance，overgrowth，advanced bone age，and varying degrees of developmental delay.The NSD1 gene variation is highly specific and sensitive to the diagnosis of Sotos syndrome.More than 90% of patients can detect microdeletions on chromosome 5q35 where the NSD1 gene is located or variants in the NSD1 gene.The proportion of microdeletions or variants in the NSD1 gene varied by race. For individuals with high clinical suspicion of Sotos syndrome，NSD1 gene sequence analysis and/or large deletion/repeat analysis of targeted gene are recommended.For atypical Sotos syndrome，CNVs combined with WES is recommended.The disease is characterized by overgrowth in the differential diagnosis of diseases，including Weaver-Smith syndrome，Cohen-Gibson syndrome，Beckwith-Wiedemann syndrome（BWS），fragile X syndrome，Marfan syndrome. Genetic counseling should pay attention to the possibility of rare mosaicism.There is no clinical trial for this disease at present，and the treatment is mainly symptomatic support，with most adult patients having a better prognosis，who can manage their lives on their own.

Key words: Sotos syndrome, overgrowth, NSD1 gene, genotype and phenotype, prognosis