Table 1.
SMAD4 immunohistochemistry in juvenile polyps from patients with a SMAD4 germline mutation.
| Patient | polyp | Exon | Mutation | Effect | SMAD4 IHC | ||
|---|---|---|---|---|---|---|---|
| normal | reduced | loss | |||||
| 1 | 1.1 | 10 | c.1411-1435del25 | p.G471FfsX25 | |||
| 1.2 | 10 | c.1411-1435del25 | p.G471FfsX25 | ||||
| 2* | 2.1 | 8 | c.970 T>C | p.C324R | |||
| 2.2 | 8 | c.970 T>C | p.C324R | ||||
| 2.3 | 8 | c.970 T>C | p.C324R | ||||
| 3* | 3.1 | 8 | c.970 T>C | p.C324R | |||
| 3.2 | 8 | c.970 T>C | p.C324R | ||||
| 4† | 4.1 | 1-11 | hemizygous deletion | ||||
| 5† | 5.1 | 1-11 | hemizygous deletion | ||||
| 5.2 | 1-11 | hemizygous deletion | |||||
| 6 | 6.1 | 8 | c.989 A>G | p.E330G | |||
| 6.2 | 8 | c.989 A>G | p.E330G | ||||
| 6.3 | 8 | c.989 A>G | p.E330G | ||||
| 7 | 7.1 | 9 | c.1193 G>A | p.W398X | |||
| 7.2 | 9 | c.1193 G>A | p.W398X | ||||
| 7.3 | 9 | c.1193 G>A | p.W398X | ||||
| 8 | 8.1 | 8 | 971delG | p.C324FfsX12 | |||
| 8.2 | 8 | 971delG | p.C324FfsX12 | ||||
| 8.3 | 8 | 971delG | p.C324FfsX12 | ||||
| 8.4 | 8 | 971delG | p.C324FfsX12 | ||||
*
Patient 2 and 3 and
†
patient 4 and 5 were from the same family