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Sambugaro, S.* ; di Ruvo, M.* ; Ambrosio, M.R.* ; Pellegata, N.S. ; Bellio, M.* ; Guerra, A.* ; Buratto, M.* ; Foschini, M.P.* ; Tagliati, F.* ; degli Uberti, E.C.* ; Zatelli, M.C.*

Early onset acromegaly associated with a novel deletion in CDKN1B 5'UTR region.

Endocrine 49, 58-64 (2015)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Acromegaly ; Cdkn1b ; Genetic Derangements; Multiple Endocrine Neoplasia; Pituitary-adenomas; Functional-characterization; Inhibitor P27; Cell-cycle; Mutation; Prevalence; Cancer; Tumors
Language english
Publication Year 2015
HGF-reported in Year 2015
ISSN (print) / ISBN 1355-008X
e-ISSN 1559-0100
Journal Endocrine
Quellenangaben Volume: 49, Issue: 1, Pages: 58-64 Article Number: , Supplement: ,
Publisher Springer
Publishing Place Totowa, NJ
Reviewing status Peer reviewed
Institute(s) Institute of Pathology (PATH)
POF-Topic(s) 30504 - Mechanisms of Genetic and Environmental Influences on Health and Disease
Research field(s) Enabling and Novel Technologies
PSP Element(s) G-500300-001
PubMed ID 25645465
DOI 10.1007/s12020-015-0540-y
WOS ID WOS:000355231900007
Scopus ID 84939942895
Erfassungsdatum 2015-02-18
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