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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Greaves, Ronda / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter


IMPACT FACTOR 2018: 3.638

CiteScore 2018: 2.44

SCImago Journal Rank (SJR) 2018: 1.191
Source Normalized Impact per Paper (SNIP) 2018: 1.205

Online
ISSN
1437-4331
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Volume 46, Issue 6

Issues

A novel MEN1 frameshift germline mutation in two Italian monozygotic twins

Paola Concolino
  • 1Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy
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/ Aurora Rossodivita / Cinzia Carrozza
  • 3Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy
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/ Marco Raffaelli / Celestino Pio Lombardi / Donato Rigante / Dario Pitocco / Achille Stabile / Rocco Bellantone / Cecilia Zuppi
  • 10Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy
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/ Ettore Capoluongo
  • 11Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar

Abstract

Background: This report describes clinical, biochemical and molecular findings regarding two Italian monozygotic twins carrying a novel multiple endocrine neoplasia type 1 (MEN1) mutation inherited from their mother.

Methods: Clinical, biochemical and genetic evaluations of the above-mentioned family members were performed.

Results: All three members were heterozygous for a deletion involving the first nucleotide at codon 98 in exon 2 of the MEN1 gene, which results in early termination of the protein. The clinical phenotypes were as follows: one out of the two twins suffered from insulinoma and hyperparathyroidism, while the second one was asymptomatic. Furthermore, the mother suffered from hyperparathyroidism, as well as from hypergastrinemia for several years before the daughter was diagnosed of MEN-1.

Conclusions: We describe a family with a new heterozygous mutation (g.292delC) in the MEN1 gene not described previously. The mutation leads to a truncated protein without activity, explaining the clinical picture of this family.

Clin Chem Lab Med 2008;46:824–6.

Keywords: identical twins; multiple endocrine neoplasia type 1 (MEN-1); novel mutation

About the article

Corresponding author: Ettore Capoluongo, PhD, Laboratory of Molecular Biology, Department of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy Phone: +39-0630154250, Fax: +39-0630156706,


Received: 2007-12-20

Accepted: 2008-02-14

Published in Print: 2008-06-01


Citation Information: Clinical Chemistry and Laboratory Medicine, Volume 46, Issue 6, Pages 824–826, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2008.165.

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