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Research Letter
February 2016

Expanding Phenotypic Spectrum of NKX2-1–Related Disorders—Mitochondrial and Immunologic Dysfunction

Author Affiliations
  • 1Department of Neurology, Mayo Clinic, Rochester, Minnesota
  • 2Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota
JAMA Neurol. 2016;73(2):237-238. doi:10.1001/jamaneurol.2015.2976

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

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