Skip to main content
. 2019 Apr 18;104(5):985–989. doi: 10.1016/j.ajhg.2019.03.018

Figure 1.

Figure 1

Genetic and Clinical Findings in Individuals with Pancreatic Agenesis

(A) Partial pedigrees and clinical features of the three individuals with the heterozygous CNOT1 p.Arg535Cys mutation.

(B) Conservation of CNOT1 residues 529 to 568 across 10 representative species. Residue p.Arg535 is highlighted in red. Residues identical to the human CNOT1 protein are highlighted in blue, differences are highlighted in gray.

(C) Coronal brain MRI of P02 showing absence of the anterior interhemispheric fissure (red arrow), fusion of the frontal lobes (orange arrow), absence of frontal horns (green arrow), absence of the sylvian fissures (yellow arrow). Splenium of the corpus callosum is visible (blue arrow).

(D) Post mortem image of P02’s liver (L), spleen (S), and duodenum (D). White arrow shows the orthotopic location of the pancreas, which is absent. Dashed arrow indicated site in which the absent gallbladder would be expected to be.