目的　探讨黑斑息肉综合征（PJS）的临床及其致病基因STK11特点。方法　回顾分析4例PJS患儿的临床资 料及患儿和父母的STK11基因突变情况。结果　4例中女3例、男1例，年龄1岁8个月至9岁6个月。均在口唇和/或手指 处发现黑斑，肠镜检查均发现不同位置的胃肠道多发息肉；行息肉切除术后，病理结果显示黏膜肌层的肌纤维增生形成树 枝样结构。基因检测发现， 4例患儿均存在STK11基因杂合突变，突变位点分别为c.582C>A，c.580G>A，c.719C>G以及 c.879insA 突变。结论　基因检测有助于早期诊断PJS，STK11基因c.879insA 突变为国内外未报道的新突变。

　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.