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ISRN Pediatr. 2011;2011:676549. doi: 10.5402/2011/676549. Epub 2011 Apr 26.

GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.

Author information

  • 1Division of Pediatric Endocrinology, Department of Pediatrics, Technische Universität München Kölner Platz 1, 80804 Munich, Germany.

Abstract

Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes inherited as an autosomal dominant trait. The second most common cause is GCK-MODY due to heterozygous mutations in the GCK gene which impair the glucokinase function through different mechanisms such as enzymatic activity, protein stability, and increased interaction with its receptor. The enzyme normally acts as a glucose sensor in the pancreatic beta cell and regulates insulin secretion. We report here a three-generation nonobese family diagnosed with diabetes. All affected family members presented with mild hyperglycemia and mostly slightly elevated hemoglobin A1c values. Genetic testing revealed a novel heterozygous T → C exchange in exon 8 of the GCK gene which resulted in a phenylalanine(330) TTC → serine (TCC)/p.Phe330Ser/F330S substitution.

PMID:
22389783
[PubMed]
PMCID:
PMC3263572
Free PMC Article
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