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Table 1 Results of the immunohistochemical analysis of intestinal polyps from Juvenile Polyposis syndrome patients carrying established SMAD4 germline mutations.

From: Smad4 haploinsufficiency: a matter of dosage

  SMAD4Germline Mutation Epithelial SMAD4 expression Stromal SMAD4 expression
  Nucleotide [ref.] Amino Acid   
JPS case #1     
polyp A nt 1042–43, 2 bp del, TTGTTA-TTTA [4] FS 350X - +
polyp B nt 1042–43, 2 bp del, TTGTTA-TTTA [4] FS 350X - -
JPS case #2     
polyp A nt 424+1, intron 2 TTGg-TTGa splice defect +/- +
JPS case #3     
polyp A nt 1058 TAC-TCC [40] Tyr353Ser +/- +
polyp B nt 1058 TAC-TCC [40] Tyr353Ser + +
polyp C nt 1058 TAC-TCC [40] Tyr353Ser + +
JPS case #4     
polyp A nt 533 TCA-TGA [40] Ser178X +/- +
polyp B nt 533 TCA-TGA [40] Ser178X + +
JPS case #5     
polyp A nt 687–692, 1 bp ins, TGGGGGGC- TGGGGGGGC [4] FS 235X + +
polyp B nt 687–692, 1 bp ins, TGGGGGGC- TGGGGGGGC [4] FS 235X - -
polyp C nt 687–692, 1 bp ins, TGGGGGGC- TGGGGGGGC [4] FS 235X +/- +/-
JPS case #6     
polyp A nt 1244–47, 4 bp del, AGACAGAG-AGAG [4] FS 434X +/- +
polyp B nt 1244–47, 4 bp del, AGACAGAG-AGAG [4] FS 434X +/- +
  1. In the last two columns, +, +/-, and - indicate homogeneously positive, patchy, and homogeneously negative nuclear SMAD4 staining, respectively (for examples of the various staining patterns, see Figure 1).