Other nonsense NKX2.1 mutations upstream to the DNA binding domain occuring with choreoathetosis, CH and respiratory distress have been reported by Krude et al. (C117X) [2], Peall et al. (W143X) [22], Ferrara et al. (S175X) [25] and Nakamura et al. (Y98X) [26]. Here, NKX2-1 is linked to Choreoathetosis.