A family report on benign hereditary chorea related to NKX2-1 gene mutation
10.3760/cma.j.cn113694-20241109-00724
- VernacularTitle:NKX2-1基因突变相关良性遗传性舞蹈病一家系
- Author:
Qinru SHEN
1
;
Wenhan TAO
1
;
Wenhao ZHANG
1
;
Xiaoyu WANG
1
;
Xulai SHI
1
Author Information
1. 温州医科大学附属第二医院（育英儿童医院）儿童神经内科，温州325027
- Publication Type:Journal Article
- Keywords:
Benign hereditary chorea;
Choreiform movements;
NKX2-1 gene;
Gene mutation
- From:
Chinese Journal of Neurology
2025;58(7):789-793
- CountryChina
- Language:Chinese
-
Abstract:
To report a Chinese pedigree with benign hereditary chorea (BHC) related to NKX2-1 gene mutation. The proband, a 16-year-old boy, was admitted with a 15-year history of recurrent involuntary choreiform movements, exacerbated over 2 weeks. The results of whole-exome sequencing showed that the proband and his mother both had a heterozygous mutation in exon 2 of the NKX2-1 gene (c.231_232dup:p.Pro78Hisfs *24), leading to a clinical diagnosis of BHC. No patient carrying this variant was previously reported in the literature. The clinical phenotype of NKX2-1 gene defects is complex, with BHC being a characteristic manifestation of the nervous system. This group of disorders is also referred to as NKX2-1-related disorders. This article discusses the clinical features, diagnosis and treatment points of patients with NKX2-1-related disorder with reference to the current literature, aiming to enhance clinicians′ understanding and management of this disease.
