Clinical features and mutation of STK11 gene in four patients with Peutz-Jeghers syndrome / 临床儿科杂志

ABSTRACT

Objective To investigate clinical features of Peutz-Jeghers syndrome(PJS)and genetic change in STK11. Methods Clinical data and genetic change in STK11 gene of four PJS children were retrospectively analyzed.Results Four patients have hyperpigmentation on their lips, buccal mucosa or fingers. Intestinal polyposis was found at different locations of gastrointestinal tract. Polypectomy was performed in four patients and pathological section displayed the muscle fibers of the muscularis mucosae form a dendritic structure. And we found 4 heterozygous mutations (c.582C>A,c.580G>A,c.719C>G and c.879insA)on STK11 gene in these patients.Conclusions The PJS patients have typical clinical features;gene detection is helpful to early diagnosis,and we found a novel mutation(c.879insA) in STK11 gene.