PRKAR1A gene mutations in two patients with myxoma syndrome (Carney complex)

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-alph...

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Bibliographic Details
Published inKardiologiia Vol. 43; no. 7; p. 77
Main Authors Skamrov, A V, Feoktistova, E S, Khaspekov, G L, Kovalevskiĭ, D A, Goriunova, L E, Bibilashvili, R Sh, Vinnitskiĭ, L I, Sheremet'eva, G F, Nechaenko, M A
Format Journal Article
LanguageRussian
Published Russia (Federation) 2003
Subjects
Adolescent
Adult
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
Cyclic AMP-Dependent Protein Kinases - genetics
Genes, Tumor Suppressor
Heart Neoplasms - genetics
Humans
Male
Multiple Endocrine Neoplasia - genetics
Mutation
Myxoma - genetics
Pedigree
Pigmentation Disorders - genetics
Syndrome
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Summary: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.
ISSN:0022-9040