Three point mutations in the LHX4 gene. A–C, Sequence analyses of patients revealed heterozygous mutations causing R84C, L190R, and A210P amino acid substitutions. D, Diagram of LHX4 protein alterations. The amino acid sequences of the relevant regions of the human (Hs) LHX4 protein are shown in alignment with LHX4, LHX3, and LIM3 proteins from chimp (Pt), mouse (Mm), cow (Bt), dog (Cf), puffer fish [Fugu rubripes (Fr)], chicken (Gg), frog [Xenopus laevis (Xl)], and fruit fly [Drosophila melanogaster (Dm)].