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Licensed Unlicensed Requires Authentication Published by De Gruyter June 11, 2019

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, Paola De Sanctis, Daniele Pirozzi, Silvana Capone, Barbara Lombardo, Antonella Gambale, Santino Confetto, Angela Zanfardino, Achille Iolascon, Lucio Pastore, Dario Iafusco and Nadia Tinto

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.

Acknowledgments

The authors are grateful to the patient and her family to have agreed to take part in this study.

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

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. 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.

References

1. 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;102:1826–34.10.1210/jc.2016-2490Search in Google Scholar

2. 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;55:981–3.10.1007/s00592-018-1179-ySearch in Google Scholar

3. 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:e1870.10.1371/journal.pone.0001870Search in Google Scholar

4. Nunziato M, Starnone F, Lombardo B, Pensabene M, Condello C, Verdesca F, et al. Fast detection of a BRCA2 large genomic duplication by next generation sequencing as a single procedure: a case report. Int J Mol Sci 2017;18.10.3390/ijms18112487Search in Google Scholar

5. Baple E, Palmer R, Hennekam RC. A microdeletion at 12q24.31 can mimic Beckwith-Wiedemann syndrome neonatally. Mol Syndromol 2010;1:42–5.10.1159/000275671Search in Google Scholar

6. 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;4:136–42.10.1159/000346473Search in Google Scholar

7. Verhoeven WM, Egger JI, Van den Bergh JP, Van Beek R, Kleefstra T, De Leeuw N. 12Q24.31 Interstitial deletion in an adult male with MODY3: neuropsychiatric and neuropsychological characteristics. Am J Med Genet 2014;167:169–73.10.1002/ajmg.a.36730Search in Google Scholar

8. Qiao Y, Tyson C, Hrynchak M, Lopez-Rangel E, Hildebrand J, Martell S, et al. Clinical application of 2.7 M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability. Clin Genet 2013;83:145–54.10.1111/j.1399-0004.2012.01860.xSearch in Google Scholar

9. Palumbo O, Palumbo P, Delvecchio M, Palladino T, Stallone R, Crisetti M, et al. Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms. Am J Med Genet 2014;167:438–44.10.1002/ajmg.a.36872Search in Google Scholar

10. 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;135:757–71.10.1007/s00439-016-1668-4Search in Google Scholar

11. 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: 503–8.10.2337/db07-0859Search in Google Scholar

12. 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: 736–44.10.1002/humu.23218Search in Google Scholar

13. 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;65:336–42.10.1007/s12031-018-1106-2Search in Google Scholar

Received: 2019-02-05
Accepted: 2019-05-15
Published Online: 2019-06-11
Published in Print: 2019-11-26

©2019 Walter de Gruyter GmbH, Berlin/Boston

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