PJS is rare. The reported incidence is 1 in 50,000 to 1 in 200,000 live births. This syndrome is caused by germline alterations in STK11 (LKB1) gene. In 50% of individuals, the disease is inherited in an autosomal-dominant manner; 50% of cases arise due to a de novo mutation. Males and females are equally affected. There is no known racial or ethnic predilection. Although a variety of mutations of STK11 may occur, there does not appear to be regional variation in the types of mutations found, or convincing evidence to support varying genotype-phenotype correlations.
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