PathoGenetics

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

	*SMAD4*Germline 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	+/-	+

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).

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