Recently, mutations in this gene and in SDHD and SDHC were described in association with Carney–Stratakis syndrome, an autosomal dominant disorder characterized by PGLs and GIST, but they have not been found in other forms of the Carney triad, suggesting that other genetic alterations may be implicated in this syndrome (45). This evidence concerns the gene SDHD and gastrointestinal stromal tumor.