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A novel genetic mutation in a Turkish family with GCK-MODY

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Abstract

Glucokinase-maturity-onset diabetes of the young (GCK-MODY) is an autosomal dominantly inherited disease caused by heterozygous inactivating mutations in the glucokinase gene. It usually presents with mild fasting hyperglycemia. Here, we present an obese patient and her family with GCK-MODY caused by a novel heterozygous p.E51*(c.151.G>T) mutation in the GCK gene.

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Abbreviations

GCK-MODY:

Glucokinase-maturity-onset diabetes of the young

GCK:

Glucokinase

BMI:

Body mass index

OGTT:

Oral glucose tolerance test

T2D:

Type 2 diabetes mellitus

FPG:

Fasting plasma glucose

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Authors and Affiliations

  1. Department of Pediatric Endocrinology, Ankara Children’s Hematology and Oncology Training Hospital, 06110, Ankara, Turkey

    S. Ahmet Ucakturk, Eda Mengen & Selin Elmaogulları

  2. Department of Pediatric Endocrinology, Medical Park Hospital, Samsun, Turkey

    Figen Gunindi

  3. Human Genetics, Intergen Laboratory, Ankara, Turkey

    Serdar Ceylaner

  4. Department of Pediatric Endocrinology, Çukurova University, Adana, Turkey

    Bilgin Yuksel

Authors
  1. S. Ahmet Ucakturk
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  2. Figen Gunindi
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  3. Serdar Ceylaner
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  4. Eda Mengen
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  5. Selin Elmaogulları
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  6. Bilgin Yuksel
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Corresponding author

Correspondence to S. Ahmet Ucakturk.

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The authors declare that they have no conflicts of interest.

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Ahmet Ucakturk, S., Gunindi, F., Ceylaner, S. et al. A novel genetic mutation in a Turkish family with GCK-MODY. Int J Diabetes Dev Ctries 37, 323–326 (2017). https://doi.org/10.1007/s13410-016-0539-9

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  • DOI: https://doi.org/10.1007/s13410-016-0539-9

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