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  • Title: Carney complex review: Genetic features.
    Author: Bosco Schamun MB, Correa R, Graffigna P, de Miguel V, Fainstein Day P.
    Journal: Endocrinol Diabetes Nutr (Engl Ed); 2018 Jan; 65(1):52-59. PubMed ID: 29162369.
    Abstract:
    Carney complex is a multiple neoplasia syndrome having endocrine and non-endocrine manifestations. Diagnostic criteria include myxoma, lentigines, and primary pigmented nodular adrenocortical disease, amongst other signs/symptoms. In most cases it is an autosomal dominant disease, and diagnosis therefore requires study and follow-up of the family members. Inactivating mutations of the PRKAR1A gene were identified as the main cause of the disease, although since 2015 other disease-related genes, including PRKACA and PRKACB activating mutations, have also been related with Carney complex. This review will address the genetic aspects related to Carney complex.
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