A novel de novo mutation in LKB1 gene in a Chinese Peutz Jeghers syndrome patient significantly diminished p53 activity.

Abstract excerpt

Peutz Jeghers syndrome (PJS) is an autosomal dominant disease caused by mutations in the LKB1 gene. We screened for the LKB1 gene mutation in a Chinese PJS patient. Sequence analysis of LKB1 exons showed that there was a novel de novo mis-sense mutation of codon 16 (GAG to GGG) in exon 1 in LKB1 gene in the Chinese PJS patient. Furthermore, we observed that wild type LKB1 expression increased p53 activity, while...

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