NKX2-1 syndrome (OMIM #610978) is a genetic disease caused by pathogenic variants in the NKX2-1<\/em> gene. Its clinical presentation may manifest all the symptoms of brain-lung-thyroid syndrome, or it may be a combination of manifestations in the brain and thyroid or isolated benign hereditary chorea (BHC).<\/p>\n<\/div> Synonyms:<\/p>\n<\/div><\/div><\/div> Brain-lung-thyroid syndrome<\/p>\n Choreoathetosis, hypothyroidism, and neonatal respiratory distress syndrome<\/p>\n<\/div><\/div><\/div><\/div> Gene:<\/p>\n<\/div><\/div><\/div> NKX2-1<\/i><\/p>\n<\/div><\/div><\/div><\/div> Gene \u00adproduct:<\/p>\n<\/div><\/div><\/div> Homeobox protein NKX2-1, also called thyroid transcription factor 1<\/p>\n<\/div><\/div><\/div><\/div> Function:<\/p>\n<\/div><\/div><\/div> Transcription factor, plays an important role in organogenesis of the basal ganglia, lungs, and thyroid<\/p>\n<\/div><\/div><\/div><\/div> Pattern of inheritance:<\/p>\n<\/div><\/div><\/div> Autosomal dominant, de novo<\/em> pathogenetic variants possible (percentage as yet unknown)<\/p>\n<\/div><\/div><\/div><\/div> Prevalence:<\/p>\n<\/div><\/div><\/div> Unknown, around 50 cases have been described so far.<\/p>\n<\/div><\/div><\/div><\/div> Genotype-phenotype correlation<\/p>\n<\/div><\/div><\/div> Large deletions lead to more severe phenotypic expressions than missense mutations.<\/p>\n<\/div><\/div><\/div><\/div> Penetrance:<\/p>\n<\/div><\/div><\/div> Unknown<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>