PMC8675567_01
PMC8675567_02
Abdominal radiographs suggested intestinal motility changes without any signs of intestinal obstruction.
fped-09-731716-g0001.jpg
PMC8675567_02_fped-09-731716-g0001.jpg
F1
Imageology examination that included abdominal radiographs suggested intestinal motility changes without any signs of intestinal obstruction (Figure 1).
Heterozygous SI mutations: (A) A non-sense mutation c.2626C > T (p.Q876*) and (B) missense mutation c.2872C > T (p.R958C) were identified in the patient (upper panels), while healthy control individuals had the wild-type sequence (lower panels). (C) The structure of the SI protein (NP_001032.2), depicting the functional domains, 40 reported mutations, and two mutations in this case. The mutations identified in this study are marked in red (novel), and previously reported mutations are marked in black. AA, amino acids.
fped-09-731716-g0002.jpg
PMC8675567_02_fped-09-731716-g0002.jpg
F2
PMC8675567_03