Figure 2. BMP4 variation and associated phenotype. A: Sequence chromatogram demonstrated the c.751C>T variation in BMP4 from the patient (left) and normal sequence from a control (right). B: The c.751C>T variation in BMP4 detected by PCR-RFLP analysis (P: PCR products [237 bp] and M: marker, showing 100 bp and 250 bp, respectively; the plus sign [+] indicates CviAII-digested-products with heterozygous c.751C>T variation; the minus sign [-] indicates CviAII-digested products without the c.751C>T variation). C: Protein alignment of human BMP4 (residues 231–271) with other BMP4 orthologs from cattle, cock, mouse, rat, and zebra fish. D and E: Ocular phenotype of the proband showing bilateral microcornea, corneal opacities, multiple pupils, persistent iris membrane adhering to cornea (right eye) or lens capsule (left eye), and anterior pole cataract (right eye). F and G: Normal ocular phenotype of the proband’s healthy brother, which also carried the heterozygous c.751C>T variation in BMP4.