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Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
Jérôme Bertherat
1 ,
Anélia Horvath ,
Lionel Groussin ,
Sophie Grabar ,
Sosipatros Boikos ,
Laure Cazabat ,
Rosella Libe ,
Fernande René-Corail ,
Sotirios Stergiopoulos ,
Isabelle Bourdeau ,
Thalia Bei ,
Eric Clauser ,
Alain Calender ,
Lawrence S Kirschner ,
Xavier Bertagna ,
J Aidan Carney ,
Constantine A Stratakis
Jun 2009
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Abstract
The "complex of myxomas, spotty skin pigmentation, and endocrine overactivity," or "Carney complex" (CNC), is caused by inactivating mutations of the regulatory subunit type 1A of the cAMP-dependent protein kinase (PRKAR1A) gene and as yet unknown defect(s) in other gene(s). Delineation of a genotype-phenotype correlation for CNC patients is essential for understanding PRKAR1A function and providing counseling and preventive care.