[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-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.
Skamrov
A V
AV
Rossiĭskiĭ kardiologicheskiĭ nauchno-proizvodstvennyĭ kompleks Minzdrava Rossiĭskoĭ Federatsii, Nauchnyĭ tsentr khirurgii RAMN, 121552 Moskva, ul. 3-ia Cherepkovskaia, d.15a.
Feoktistova
E S
ES
Khaspekov
G L
GL
Kovalevskiĭ
D A
DA
Goriunova
L E
LE
Bibilashvili
R Sh
RSh
Vinnitskiĭ
L I
LI
Sheremet'eva
G F
GF
Nechaenko
M A
MA
D000293:Adolescent; D000328:Adult; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; D017868:Cyclic AMP-Dependent Protein Kinases / Q000235:genetics*; D016147:Genes, Tumor Suppressor; D006338:Heart Neoplasms / Q000235:genetics*; D006801:Humans; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D009154:Mutation; D009232:Myxoma / Q000235:genetics*; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D013577:Syndrome
D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human; D017868:Cyclic AMP-Dependent Protein Kinases