Two novel STK11 mutations in three Chinese families with Peutz-Jeghers syndrome

Background Peutz-Jeghers syndrome(PJS)is an autosomal dominantly inherited disease.STK11/LKB1 genegermline mutations have been identified as responsible for PJS.In our study,we investigated the molecular basis of PJSand evaluated correlation between the STK11 mutations and the Chinese population.Methods We collected three pedigrees of PJS and screened the 9 exons and their flanking intronic sequences ofSTK11/LKB1 gene in the probands and normal individuals in the families using polymerase chain reaction(PCR)anddirect sequencing.Results Sequencing of the STK11 gene in the probands of 3 families revealed two novel mutations(c180C→G andc998-1002delGCAGC)in exon 1 and exon 8,respectively.The mutation of c180C→G resulted in a premature terminationcodon.The other mutation,a deletion of five nucleotides(998-1002delGCAGC)in exon 8,predicted to generate atranslational frameshift and a termination at codon 1070.Conclusions The growing number of mutations in PJS pedigrees suggests the molecular basis of PJS.STK11 genemutation can be detected in most patients with PJS.Chin Med J 2007;120(13):1183-1186