Table 1

Germ-line mutations of the LKB1 gene in Japanese PJS patients

PatientExonCodonGerm-line mutationProtein change
PLK76137G deletionTruncation at codon 50–51
PLK290297g/G to t/GDeletion of exon 2
PLK3964189–19725-bp repeatTruncation at codon 264–265
PJR15214–215G insertionTruncation at codon 264–265
PJR45222C deletionTruncation at codon 286–287
PJ76263–265TTGT deletionTruncation at codon 286–287