title: Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.
abstract: Endocrine neoplasia syndromes feature a wide spectrum of benign and malignant tumors of endocrine and non-endocrine organs associated with other clinical manifestations. This study outlines the main clinical features, genetic basis, and molecular mechanisms behind two multiple endocrine neoplasia syndromes that share quite a bit of similarities, but one can be inherited whereas the other is always sporadic, Carney complex (CNC) and McCune-Albright (MAS), respectively. Spotty skin pigmentation, cardiac and other myxomas, and different types of endocrine tumors and other characterize Carney complex, which is caused largely by inactivating Protein kinase A, regulatory subunit, type I, Alpha (PRKAR1A) gene mutations. The main features of McCune-Albright are fibrous dysplasia of bone (FD), café-au-lait macules and precocious puberty; the disease is caused by activating mutations in the Guanine Nucleotide-binding protein, Alpha-stimulating activity polypeptide (GNAS) gene which are always somatic. We review the clinical manifestations of the two syndromes and provide an update on their molecular genetics.
authors.affiliation: Section on Endocrinology and Genetics, Program on Developmental Endocrinology & Genetics (PDEGEN) & Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver, National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA. Electronic address: salpeapa@mail.nih.gov.
authors.forename: Paraskevi
authors.initials: P
authors.lastname: Salpea
authors.affiliation: Section on Endocrinology and Genetics, Program on Developmental Endocrinology & Genetics (PDEGEN) & Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver, National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
mesh_terms: D000818:Animals; D063646:Carcinogenesis / Q000235:genetics; D056733:Carney Complex / Q000150:complications* / Q000235:genetics*; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications* / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics
keywords: Carney complex; Endocrine neoplasia; GNAS; McCune–Albright; PRKAR1A