A deletion in the PRKAR1A gene is associated with Carney complex.
Mutations of the PRKAR1A gene are an important cause of Carney complex (CC). The PRKAR1A gene encodes the type 1A regulatory subunit of cAMP-dependent protein kinase A. We have identified one mutation of PRKAR1A (553delG) in three members of the same family affected by CC. This mutation was not identified in six unaffected family members, 12 patients with sporadic cardiac myxoma and 100 non-related healthy individuals. The novel mutation (553delG) is predicted to produce a frameshift leading to a premature stop codon. RNA analysis in the index patient showed normal size transcripts in RT-PCR amplicons of several exons, but an overall tendency to lower amounts of transcripts in relation to GAPDH controls. In Western blot analyses only full-length protein was present without any evidence of truncated product. These data suggest that the mutant allele might be a null allele due to degradation of the mutant mRNA via nonsense-mediated decay.
Vargas-Alarcón
Gilberto
G
Department of Physiology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, DF Mexico. gvargas63@yahoo.com
Vargas-Barrón
Jesús
J
Cruz-Robles
David
D
Pérez-Vielma
Nadia
N
García-Trejo
José J
JJ
Aguilar-Gaytán
Rocio
R
Cortés-Hernández
Paulina
P
Vazquez-Ortíz
Zuilma Y
ZY
Romero-Cardenas
Angel
A
D000328:Adult; D015153:Blotting, Western; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases / Q000378:metabolism; D006801:Humans; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D009232:Myxoma / Q000150:complications / Q000235:genetics; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012313:RNA / Q000235:genetics
D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human; D012313:RNA; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases