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J Pediatr Endocrinol Metab. 2012;25(7-8):805-8.

Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation.

Author information

1
Department of Pediatric Endocrinology, Akdeniz University, 07070 Antalya, Turkey. drerdemdurmaz@yahoo.com

Abstract

Homozygous mutations in the glucokinase gene (GCK) result in a complete deficiency of the GCK enzyme, which leads to permanent neonatal diabetes mellitus. Whilst there has been one report of a patient (with a homozygous p.T168A) who was diagnosed with diabetes at the age of 2 months, all other cases were diagnosed with diabetes within the first 2 weeks of life. We now report a second unrelated patient with the same p.T168A GCK mutation who was diagnosed with diabetes at the age of 9 months. We conclude that the specific GCK mutation, as yet unidentified genetic modifiers, and/or environmental factors might have different effects on pancreatic beta-cell functions, causing variability in the age at diagnosis of diabetes.

PMID:
23155716
DOI:
10.1515/jpem-2012-0077
[Indexed for MEDLINE]

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