Early onset acromegaly associated with a novel deletion in CDKN1B 5′UTR region View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-05

AUTHORS

Silvia Sambugaro, Mauro Di Ruvo, Maria Rosaria Ambrosio, Natalia S. Pellegata, Mariaenrica Bellio, Alessandra Guerra, Mattia Buratto, Maria Pia Foschini, Federico Tagliati, Ettore degli Uberti, Maria Chiara Zatelli

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. More... »

PAGES

58-64

References to SciGraph publications

  • 2013-10. Multiple endocrine neoplasia syndromes associated with mutation of p27 in JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
  • Identifiers

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    http://scigraph.springernature.com/pub.10.1007/s12020-015-0540-y

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    http://dx.doi.org/10.1007/s12020-015-0540-y

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25645465


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