A novel mutation in the STK-11 gene in a pedigree with Peutz-Jeghers syndrome / 中华皮肤科杂志

ABSTRACT

Objective To detect mutations in the STK-11 gene in a pedigree with Peutz-Jeghers syndrome (PJS).Methods Blood samples were collected from a 19-year-old male patient with PJS and his unaffected mother,as well as from 100 unrelated healthy human controls.PCR was performed to amplify all the exons of the STK-11 gene followed by sequencing.Results A novel heterozygous missense mutation (G-to-T transition) was identified at position 1251 in the exon 9 of the STK-11 gene in the patient,but not in his mother or the unrelated healthy human controls.Conclusions The missense mutation A417S,which may affect gene transcription and translation,is a specific novel mutation of STK-11 gene.