Fig. 2.

Two novel mutations associated with recessive HPE and SOD. A and B, A total of 421 patients with hypopituitarism phenotypes ranging from HPE to SOD were screened for mutations in FGF8 by direct sequencing. A female patient with HPE exhibited a novel homozygous mutation at position c.566, resulting in a p.R189H substitution (A, arrow) in a highly conserved residue in all vertebrates analyzed (B). C and D, A second female patient with SOD and Moebius syndrome exhibited a novel heterozygous mutation at position c.646, leading to a p.Q216E substitution (C, arrow) in a highly conserved amino acid among mammals (D). E, Sagittal MRI scan of our SOD/Moebius syndrome patient (Q216E), demonstrating an absent corpus callosum (asterisk) but otherwise normal anterior pituitary (AP) and posterior pituitary (PP) glands. F, Sagittal and coronal MRI scans of a normal control subject and our HPE (p.R189H) patient. The latter presented with an absent corpus callosum (asterisk) and an enlarged anterior pituitary (AP). Failure of the brain to divide into its cerebral hemispheres in the patient is apparent in the coronal sections with a clearer view of the absent corpus callosum in the far right image.