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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma

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Volume 28, Issue 11-12


Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing

Ahmet Anık
  • Corresponding author
  • Faculty of Medicine, Department of Pediatric Endocrinology, Dokuz Eylul University, İzmir, Turkey
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Gönül Çatlı
  • Faculty of Medicine, Department of Pediatric Endocrinology, Dokuz Eylul University, İzmir, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Ayhan Abacı
  • Faculty of Medicine, Department of Pediatric Endocrinology, Dokuz Eylul University, İzmir, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Erkan Sarı / Ediz Yeşilkaya / Hüseyin Anıl Korkmaz / Korcan Demir
  • Faculty of Medicine, Department of Pediatric Endocrinology, Dokuz Eylul University, İzmir, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Ayça Altıncık / Hale Ünver Tuhan
  • Faculty of Medicine, Department of Pediatric Endocrinology, Dokuz Eylul University, İzmir, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Sefa Kızıldağ
  • Faculty of Medicine, Department of Medical Biology and Medical Genetics, Dokuz Eylul University, İzmir, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Behzat Özkan / Serdar Ceylaner / Ece Böber
  • Faculty of Medicine, Department of Pediatric Endocrinology, Dokuz Eylul University, İzmir, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2015-07-30 | DOI: https://doi.org/10.1515/jpem-2014-0430


Aim: To perform molecular analysis of pediatric maturity onset diabetes of the young (MODY) patients by next-generation sequencing, which enables simultaneous analysis of multiple genes in a single test, to determine the genetic etiology of a group of Turkish children clinically diagnosed as MODY, and to assess genotype-phenotype relationship.

Methods: Forty-two children diagnosed with MODY and their parents were enrolled in the study. Clinical and laboratory characteristics of the patients at the time of diagnosis were obtained from hospital records. Molecular analyses of GCK, HNF1A, HNF4A, HNF1B, PDX1, NEUROD1, KLF11, CEL, PAX4, INS, and BLK genes were performed on genomic DNA by using next-generation sequencing. Pathogenicity for novel mutations was assessed by bioinformatics prediction software programs and segregation analyses.

Results: A mutation in MODY genes was identified in 12 (29%) of the cases. GCK mutations were detected in eight cases, and HNF1B, HNF1A, PDX1, and BLK mutations in the others. We identified five novel missense mutations – three in GCK (p.Val338Met, p.Cys252Ser, and p.Val86Ala), one in HNF1A (p.Cys241Ter), and one in PDX1 (p.Gly55Asp), which we believe to be pathogenic.

Conclusion: The results of this study showed that mutations in the GCK gene are the leading cause of MODY in our population. Moreover, genetic diagnosis could be made in 29% of Turkish patients, and five novel mutations were identified.

Keywords: childhood; MODY; next-generation sequencing


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About the article

Corresponding author: Ahmet Anık, MD, Faculty of Medicine, Department of Pediatric Endocrinology, Dokuz Eylul University, 35340, Balçova, İzmir, Turkey, Phone: +90-232-4126081, Fax: +90-232-4126001, E-mail:

Received: 2014-10-13

Accepted: 2015-06-22

Published Online: 2015-07-30

Published in Print: 2015-11-01

Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 28, Issue 11-12, Pages 1265–1271, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2014-0430.

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