title: Early onset acromegaly associated with a novel deletion in CDKN1B 5'UTR region.
abstract: Genetic alterations frequently are involved in the development of a pituitary adenoma in young age. We here characterize the functional role of a deletion in CDKN1B 5'-UTR region (c.-29_-26delAGAG) identified in an acromegalic patient that developed a growth hormone in pituitary adenoma during childhood. Our results show that the identified novel heterozygous deletion in the CDKN1B 5'-UTR region associates with a reduction in CDKN1B mRNA levels, a predicted altered secondary mRNA structure, and a reduced CDKN1B 5'-UTR transcriptional activity in vitro. The patient displayed loss of heterozygosity in the same CDKN1B 5'-UTR region at tissue level and the 5'UTR region containing the deleted sequence encompasses a GRE. These findings indicate that the identification of functional alterations of newly discovered genetic derangements need to be fully characterized and always correlated with the clinical manifestations.
authors: Section of Endocrinology and Internal Medicine, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
authors: Silvia
authors: S
authors: Sambugaro
authors: Mauro
authors: M
authors: Di Ruvo
authors: Maria Rosaria
authors: MR
authors: Ambrosio
authors: Natalia S
authors: NS
authors: Pellegata
authors: Mariaenrica
authors: M
authors: Bellio
authors: Alessandra
authors: A
authors: Guerra
authors: Mattia
authors: M
authors: Buratto
authors: Maria Pia
authors: MP
authors: Foschini
authors: Federico
authors: F
authors: Tagliati
authors: Ettore
authors: E
authors: degli Uberti
authors: Maria Chiara
authors: MC
authors: Zatelli
mesh_terms: D020121:5' Untranslated Regions; D000172:Acromegaly / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D050760:Cyclin-Dependent Kinase Inhibitor p27 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans
chemical_list: D020121:5' Untranslated Regions; C436291:CDKN1B protein, human; D050760:Cyclin-Dependent Kinase Inhibitor p27
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