RGD Reference Report - Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. - Rat Genome Database

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Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

Authors: Kirschner, LS  Carney, JA  Pack, SD  Taymans, SE  Giatzakis, C  Cho, YS  Cho-Chung, YS  Stratakis, CA 
Citation: Kirschner LS, etal., Nat Genet. 2000 Sep;26(1):89-92.
RGD ID: 1581267
Pubmed: PMID:10973256   (View Abstract at PubMed)
DOI: DOI:10.1038/79238   (Journal Full-text)

Carney complex (CNC) is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumours and psammomatous melanotic schwannomas. CNC is inherited as an autosomal dominant trait and the genes responsible have been mapped to 2p16 and 17q22-24 (refs 6, 7). Because of its similarities to the McCune-Albright syndrome and other features, such as paradoxical responses to endocrine signals, genes implicated in cyclic nucleotide-dependent signalling have been considered candidates for causing CNC (ref. 10). In CNC families mapping to 17q, we detected loss of heterozygosity (LOH) in the vicinity of the gene (PRKAR1A) encoding protein kinase A regulatory subunit 1-alpha (RIalpha), including a polymorphic site within its 5' region. We subsequently identified three unrelated kindreds with an identical mutation in the coding region of PRKAR1A. Analysis of additional cases revealed the same mutation in a sporadic case of CNC, and different mutations in three other families, including one with isolated inherited cardiac myxomas. Analysis of PKA activity in CNC tumours demonstrated a decreased basal activity, but an increase in cAMP-stimulated activity compared with non-CNC tumours. We conclude that germline mutations in PRKAR1A, an apparent tumour-suppressor gene, are responsible for the CNC phenotype in a subset of patients with this disease.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Myxoma  IAGP 1581267 RGD 
Myxoma  ISOPRKAR1A (Homo sapiens)1581267; 1581267 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Prkar1a  (protein kinase cAMP-dependent type I regulatory subunit alpha)

Genes (Mus musculus)
Prkar1a  (protein kinase, cAMP dependent regulatory, type I, alpha)

Genes (Homo sapiens)
PRKAR1A  (protein kinase cAMP-dependent type I regulatory subunit alpha)


Additional Information