SETBP1基因新发突变致Schinzel-Giedion综合征1例  

Schinzel-Giedion syndrome caused by de novo mutation in the SETBP1 gene:a case report

作　　者：林伟泽 林彩梅 范钱英 Lin Weize;Lin Caimei;Fan Qianying(Department of Rehabilitation,Xiamen Hospital of Pediatrics Affiliated to Fudan University,Xiamen Children's Hospital,Xiamen 361006,China)

机构地区：[1]复旦大学附属儿科医院厦门医院(厦门市儿童医院)康复科,厦门361006

出　　处：《中华神经科杂志》2024年第10期1154-1159,共6页Chinese Journal of Neurology

摘　　要：SETBP1基因突变所致Schinzel-Giedion综合征是一种罕见的神经发育障碍疾病,其特征是神经发育障碍、多器官先天发育异常(如骨骼异常、泌尿系统和肾脏畸形、心脏缺陷等)及儿童癌症风险增高。文中报道1例经基因和临床确诊的SETBP1基因突变所致Schinzel-Giedion综合征相关神经发育障碍患者的临床资料和诊治过程,并结合文献复习分析该疾病的临床特点,以提高临床医生对该疾病的认识。Schinzel-Giedion syndrome caused by SETBP1 gene mutation is a rare neurodevelopmental disorder characterized by neurodevelopmental disorders,multi-organ congenital developmental abnormalities(such as skeletal anomalies,urinary and renal malformations,heart defects,etc.),and an increased risk of childhood cancer.The clinical data and diagnosis and treatment process of a patient with Schinzel-Giedion syndrome related neurodevelopmental disorders caused by SETBP1 gene mutation were reported in this article.The clinical characteristics of the disease were analyzed through literature review to improve clinical doctors′understanding of the disease.

关 键 词：SETBP1基因 Schinzel-Giedion综合征 神经发育障碍 全外显子测序 

分 类 号：R725.9[医药卫生—儿科]