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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

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1437-4331
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Molecular diagnosis of MODY3 permitted to reveal a de novo 12q24.31 deletion and to explain a complex phenotype in a young diabetic patient

Fernanda Iafusco
  • Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy
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/ Paola De Sanctis
  • Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy
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/ Daniele Pirozzi
  • Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy
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/ Silvana Capone
  • Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy
  • CEINGE-Biotecnologie Avanzate, Naples, Italy
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/ Barbara Lombardo
  • Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy
  • CEINGE-Biotecnologie Avanzate, Naples, Italy
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/ Antonella Gambale
  • Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy
  • CEINGE-Biotecnologie Avanzate, Naples, Italy
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/ Santino Confetto / Angela Zanfardino / Achille Iolascon
  • Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy
  • CEINGE-Biotecnologie Avanzate, Naples, Italy
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/ Lucio Pastore
  • Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy
  • CEINGE-Biotecnologie Avanzate, Naples, Italy
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/ Dario Iafusco / Nadia Tinto
  • Corresponding author
  • Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy
  • CEINGE-Biotecnologie Avanzate, Naples, Italy
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Published Online: 2019-06-11 | DOI: https://doi.org/10.1515/cclm-2019-0137

References

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    Delvecchio M, Mozzillo E, Salzano G, Iafusco D, Frontino G, Patera PI, et al. Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012. J Clin Endocrinol Metab 2017;102:1826–34.PubMedCrossrefWeb of ScienceGoogle Scholar

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    Delvecchio M, Salzano G, Bonura C, Cauvin V, Cherubini V, d’Annunzio G, et al. Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED). Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? Acta Diabetol 2018;55:981–3.CrossrefGoogle Scholar

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    Tinto N, Zagari A, Capuano M, De Simone A, Capobianco V, Daniele G, et al. Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy. PLoS One 2008;3:e1870.CrossrefPubMedWeb of ScienceGoogle Scholar

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    Chouery E, Choucair N, Abou Ghoch J. Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father. Mol Syndromol 2013;4:136–42.PubMedGoogle Scholar

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    Labonne JD, Lee KH, Iwase S, Kong IK, Diamond MP, Layman LC, et al. An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability. Hum Genet 2016;135:757–71.CrossrefWeb of ScienceGoogle Scholar

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    Bellanné-Chantelot C, Carette C, Riveline JP, Valéro R, Gautier JF, Larger E, et al. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity onset diabetes of the young MODY3. Diabetes 2008;57: 503–8.CrossrefPubMedGoogle Scholar

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    Sadovnick AD, Gu BJ, Traboulsee AL, Bernales CQ, Encarnacion M, Yee IM, et al. Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis. Hum Mutat 2017;38: 736–44.CrossrefWeb of SciencePubMedGoogle Scholar

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    Sayad A, Ranjbaran F, Ghafouri-Fard S, Arsang-Jang S, Taheri M. Expression analysis of CYFIP1 and CAMKK2 genes in the blood of epileptic and schizophrenic patients. J Mol Neurosci 2018;65:336–42.Web of ScienceCrossrefPubMedGoogle Scholar

About the article

Corresponding author: Prof. Nadia Tinto, MD, PhD, Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, via Sergio Pansini 5, 80131 Naples, Italy; and CEINGE-Biotecnologie Avanzate, Via Gaetano Salvatore 486, 80145 Naples, Italy, Phone: +39 081 7463532, Fax: +39 081 7462404

aFernanda Iafusco and Paola De Sanctis contributed equally to this work.


Received: 2019-02-05

Accepted: 2019-05-15

Published Online: 2019-06-11


Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


Citation Information: Clinical Chemistry and Laboratory Medicine (CCLM), 20190137, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/cclm-2019-0137.

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