PRKAR1A gene mutations in two patients with myxoma syndrome (Carney complex)
Skamrov, A.V.; Feoktistova, E.S.; Khaspekov, G.L.; Kovalevskiĭ, D.A.; Goriunova, L.E.; Bibilashvili, R.S.; Vinnitskiĭ, L.I.; Sheremet'eva, G.F.; Nechaenko, M.A.
Kardiologiia 43(7): 77-82
2003
ISSN/ISBN: 0022-9040 PMID: 12891303 Document Number: 559139
Carney complex is an autosomic dominant disorder initially described as the association of cardiac myxomas, spotty skin pigmentation and endocrine overactivity and considered as a multiple neoplasia and lentiginosis syndrome. Mutations in the tumor suppressor gene PRKAR1A, coding for the type 1-alpha regulatory subunit of cAMP-depended protein kinase A have been previously identified in about half of the Carney complex kindreds. In this paper we report identification of the molecular defect in PRKARIA gene in two Carney complex patients. A new mutation (403delAC) located in a 3rd exon of PRKARIA gene has been observed in one case, and a previously described mutation in exon 7 (847delTC) in the second case.