Figure 2  HIST1H1E Mutations Cause OGID
(A) HIST1H1E mutations cluster within 12 bp region in the carboxy-terminal domain (CTD) and have a similar predicted impact on protein function. The three different frameshift mutations generate the same open reading frame (frame 2), which is predicted to reduce the length and net charge (at pH 7) of the CTD compared to the wild-type (frame 1). The other possible alternate reading frame (frame 3) increases the protein length and net charge. Abbreviations: CTD, carboxy-terminal domain; NTD, amino-terminal domain.
(B–D) Facial images of three individuals with HIST1H1E mutations showing full cheeks and high hairline.