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Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex
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Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex
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Journal Article
Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex
2000
Overview
Carney complex (CNC) is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumours and psammomatous melanotic schwannomas
1
,
2
,
3
,
4
,
5
. 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
5
,
8
and other features, such as paradoxical responses to endocrine signals
9
, 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-α (RIα), 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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Alleles
/ Animal Genetics and Genomics
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Cancer
/ Chromatography, High Pressure Liquid
/ Complications and side effects
/ Cyclic AMP-Dependent Protein Kinases - genetics
/ Cyclic AMP-Dependent Protein Kinases - metabolism
/ DNA, Complementary - metabolism
/ Endocrine Gland Neoplasms - genetics
/ Exons
/ Female
/ General aspects. Associated endocrine diseases. Endocrine paraneoplasic syndromes
/ Genotype
/ Humans
/ Introns
/ letter
/ Male
/ Mutation
/ Pedigree
