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Licensed Unlicensed Requires Authentication Published by De Gruyter December 15, 2015

Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing

  • Sebahat Yılmaz Ağladıoğlu EMAIL logo , Zehra Aycan , Semra Çetinkaya , Veysel Nijat Baş , Aşan Önder , Havva Nur Peltek Kendirci , Haldun Doğan and Serdar Ceylaner


Background: Maturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseasesand is often misdiagnosed as type 1 or type 2 diabetes. The aim of this study is to investigate both novel and proven mutations of 11 MODY genes in Turkish children by using targeted next generation sequencing.

Methods: A panel of 11 MODY genes were screened in 43 children with MODY diagnosed by clinical criterias. Studies of index cases was done with MISEQ-ILLUMINA, and family screenings and confirmation studies of mutations was done by Sanger sequencing.

Results: We identified 28 (65%) point mutations among 43 patients. Eighteen patients have GCK mutations, four have HNF1A, one has HNF4A, one has HNF1B, two have NEUROD1, one has PDX1 gene variations and one patient has both HNF1A and HNF4A heterozygote mutations.

Conclusions: This is the first study including molecular studies of 11 MODY genes in Turkish children. GCK is the most frequent type of MODY in our study population. Very high frequency of novel mutations (42%) in our study population, supports that in heterogenous disorders like MODY sequence analysis provides rapid, cost effective and accurate genetic diagnosis.

Corresponding author: Sebahat Yılmaz Ağladıoğlu, MD, Pediatric Endocrinologist, Dr Sami Ulus Children’s Health and Disease Training and Research Hospital, Clinics of Pediatric Endocrinology, Ankara, Turkey, Phone: +90 312 305 65 15, Fax: +90 312 317 03 53


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Received: 2015-1-24
Accepted: 2015-10-19
Published Online: 2015-12-15
Published in Print: 2016-4-1

©2016 by De Gruyter

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