TY - JOUR
T1 - A deletion in the PRKAR14 gene is associated with Carney complex
AU - Vargas-Alarcón, Gilberto
AU - Vargas-Barrón, Jesús
AU - Cruz-Robles, David
AU - Pérez-Vielma, Nadia
AU - García-Trejo, José J.
AU - Aguilar-Gaytán, Rocio
AU - Cortés-Hernández, Paulina
AU - Vazquez-Ortíz, Zuilma Y.
AU - Romero-Cardenas, Angel
PY - 2008/7
Y1 - 2008/7
N2 - 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.
AB - 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.
KW - Cardiovascular diseases
KW - Carney complex
KW - Genes
KW - Genetics
KW - Molecular biology
KW - Mutation
UR - http://www.scopus.com/inward/record.url?scp=51349166630&partnerID=8YFLogxK
M3 - Artículo
SN - 0334-018X
VL - 21
SP - 705
EP - 709
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
IS - 7
ER -