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.

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.