Novel PRKAR1A gene mutations in Carney complex

Lorraine Pan, Lan Peng, J. Jean-Gilles, Ximin Zhang, Rosemary Wieczorek, Shilpa Jain, Vicki Levine, Iman Osman, Victor G. Prieto, Peng Lee

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)545-548
Number of pages4
JournalInternational Journal of Clinical and Experimental Pathology
Issue number5
StatePublished - Sep 1 2010


  • Carney complex
  • Mutation
  • Myxomas
  • PRKAR1

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology


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