Figure 2.

(A) Sanger sequencing confirmation of c.1024-1G > T and c.544G > A mutation of DCDC2 in patient 1 and his parents. (B) Pedigree of patient 3 and 4, I-1 was the father, I-2 was the mother, II-1 was patient 3, II-2 was patient 4. (C) Conservation status of amino acid residues of the two variants across various species in four patients. (D) Wild and mutated types of the p. Gly182Arg variant in patient 1 compared by PyMol. (E) Spatial conformation of the frameshift mutation (p. Ile177Asnfs*20) showed by protein modeling. (F) Illustration of DCDC2 protein domains, location of amino acid changes in four patients.