title: Novel PRKAR1A gene mutations in Carney Complex.
abstract: Carney complex is a syndrome that may include cardiac and mucocutaneous myxomas, spotting skin pigmentation, and endocrine lesions. Many patients with Carney complex have been shown to have a stop codon mutation in the PRKAR1A gene in the 17q22-24 region. Here we present the case of a 57 year-old man with multiple skin lesions and cardiac myxomas. Histology of the skin lesions showed lentigenous melanocytic hyperplasia and cutaneous myxomas, confirming the diagnosis of Carney complex. Lesional and control normal tissue from the patient were identified and sequenced for the PRKAR1A gene. A germline missense mutation was identified at exon 1A. This is the first report of this mutation, and one of the few reported missense mutation associated with Carney complex. This finding strengthens the argument that there are alternative ways in which the protein kinase A 1-alpha subunit plays a role in tumorigenesis.
authors.affiliation: Department of Pathology, New York University School of Medicine, NY, New York 10010, USA.
authors.forename: Lorraine
authors.initials: L
authors.lastname: Pan
authors.forename: Lan
authors.initials: L
authors.lastname: Peng
authors.forename: J
authors.initials: J
authors.lastname: Jean-Gilles
authors.forename: Ximin
authors.initials: X
authors.lastname: Zhang
authors.forename: Rosemary
authors.initials: R
authors.lastname: Wieczorek
authors.forename: Shilpa
authors.initials: S
authors.lastname: Jain
authors.forename: Vicki
authors.initials: V
authors.lastname: Levine
authors.forename: Iman
authors.initials: I
authors.lastname: Osman
authors.forename: Victor G
authors.initials: VG
authors.lastname: Prieto
authors.forename: Peng
authors.initials: P
authors.lastname: Lee
mesh_terms: D056733:Carney Complex / Q000235:genetics* / Q000473:pathology; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human