A novel NKX2-1 frameshift variant expanding the genetic landscape of benign hereditary chorea.

ABSTRACT:

Introduction

Benign hereditary chorea (BHC) is a rare childhood-onset hyperkinetic disorder caused by pathogenic variants in NKX2-1. It typically follows a stationary or only mildly progressive course and may be associated with thyroid and respiratory involvement, constituting the "brain-lung-thyroid" syndrome.

Methods

We report the case of a girl carrying a novel heterozygous NKX2-1 frameshift variant. Clinical assessment included longitudinal neurological examinations, neuroimaging, laboratory testing, cardiological evaluation, and genetic analysis.

Results

A 6-year-old girl, first evaluated at age 3 for delayed psychomotor milestones, showed choreiform movements with motor impersistence, milkmaid's grip, and imbalance, sparing the forehead. Brain MRI was normal. Th

SUBMITTER: Aloisio S 

PROVIDER: S-EPMC12719338 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature