Schinzel-Giedion syndrome caused by de novo mutation in the SETBP1 gene: a case report
10.3760/cma.j.cn113694-20240130-00064
- VernacularTitle:SETBP1基因新发突变致Schinzel-Giedion综合征1例
- Author:
Weize LIN
1
;
Caimei LIN
;
Qianying FAN
Author Information
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
- Keywords:
SETBP1 gene;
Schinzel-Giedion syndrome;
Neurodevelopmental disorders;
Whole-exome sequencing
- From:
Chinese Journal of Neurology
2024;57(10):1154-1159
- CountryChina
- Language:Chinese
-
Abstract:
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.
