The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998. [ http://www.ncbi.nlm.nih.gov/pubmed/9565498 https://orcid.org/0009-0009-9147-3105 ]