Table 3 Summary of STK11 mutations identified in patients
From: Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome
Case no | Incidence | Age at onset | Variation type | Location | Variation position | Predicted consequence |
|---|---|---|---|---|---|---|
1 | Sporadic | 1 y | Frameshift | Exon 4 | c.481het_dupA | p.I161Nfs*2 |
2 | Sporadic | 2 y | Nonsense | Exon 5 | c.658C>C/T | p.G220X |
3 | Sporadic | 1 y | Frameshift | Exon 8 | c.943_944het_delCCinsG | p.P315Gfs*21 |
4 | Sporadic | 7 y | Frameshift | Exon 3 | c.397het_delG | p.V133Cfs*28 |
5 | Family | 3 y | Missense | Exon 7 | c.890G>G/A | p.R297K |
6 | Family | 2 y | Splice site | Intron 6 | c.862+1G>G/A | - |
7 | Sporadic | 6 y | Missense | Exon 8 | c.1062C>C/G | p.F354L |
8 | Family | 6 y | Splice site | Intron 1 | c.290+1G>G/A | - |
9 | Sporadic | 1 y | Frameshift | Exon 2 | c.348_349het_delGT | p.L117Ifs*45 |
10 | Sporadic | 6 m | N | N | N | N |
11 | Family | 6 y | Frameshift | Exon 6 | c.803_804het_delGGinsC | p.G268Afs*19 |
12 | Sporadic | 2y | Frameshift | Exon 1 | c.121_139del19insTT | p.K41Lfs*116 |
13 | Sporadic | 1y | ND | ND | ND | ND |