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Autosomal dominant NKX2-1–related disorders present with a spectrum of manifestations that includes benign hereditary chorea, hypothyroidism, and pulmonary dysfunction (brain-lung-thyroid syndrome).1,2 Multisystem involvement varies substantially,3 likely stemming from the mutated protein’s function. NKX2-1 is a transcription factor expressed during development of the central nervous system, especially the basal ganglia and hypothalamus, thyroid, and lung.4
Coon EA, Ahlskog JE, Patterson MC, Niu Z, Milone M. Expanding Phenotypic Spectrum of NKX2-1–Related Disorders—Mitochondrial and Immunologic Dysfunction. JAMA Neurol. 2016;73(2):237-238. doi:10.1001/jamaneurol.2015.2976