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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
  1. Novel variants are in bold font
  2. N negative, ND not detected