title: Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X).
abstract: We report the sporadic case of a 9 year-old boy with Carney syndrome, who presented with precocious puberty due to the endocrinological effects of primary pigmented nodular adrenocortical disease (PPNAD) and a synchronous pituitary adenoma. The adrenal tumor was removed surgically. Following unsuccessful treatment with bromocriptine the pituitary adenoma was also resected and a residual tumor irradiated. Thirty months after diagnosis the boy is free of symptoms. Mutation screening of the entire coding region of the PRKAR1A gene identified five single nucleotide exchanges, four of which were either heterozygous or homozygous polymorphic variants that were also present in his parents. However, the hitherto unreported disease-relevant mutation R96X in exon 3 had occurred de novo on the paternal allele.
authors.affiliation: Department of Pediatrics, Division of Hematology and Oncology, Graz, Austria.
authors.forename: Christian
authors.initials: C
authors.lastname: Urban
authors.forename: Andreas
authors.initials: A
authors.lastname: Weinhäusel
authors.forename: Peter
authors.initials: P
authors.lastname: Fritsch
authors.forename: Petra
authors.initials: P
authors.lastname: Sovinz
authors.forename: Gudrun
authors.initials: G
authors.lastname: Weinhandl
authors.forename: Herwig
authors.initials: H
authors.lastname: Lackner
authors.forename: Anne
authors.initials: A
authors.lastname: Moritz
authors.forename: Oskar A
authors.initials: OA
authors.lastname: Haas
mesh_terms: D000236:Adenoma / Q000175:diagnosis / Q000235:genetics; D000303:Adrenal Cortex Diseases / Q000175:diagnosis / Q000235:genetics; D000483:Alleles; D002648:Child; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; D017868:Cyclic AMP-Dependent Protein Kinases / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis / Q000235:genetics*; D009232:Myxoma / Q000175:diagnosis / Q000235:genetics*; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics*; D010911:Pituitary Neoplasms / Q000175:diagnosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012983:Soft Tissue Neoplasms / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
chemical_list: D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human; D017868:Cyclic AMP-Dependent Protein Kinases