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J Pediatr Endocrinol Metab. 2012;25(7-8):801-3.

MODY2 caused by a novel mutation of GCK gene.

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1
Faculty of Medicine, University of Tartu, Tartu, Estonia.

Abstract

Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant inherited disease caused by heterozygous inactivating mutations in the glucokinase (GCK) gene and is characterized by mild noninsulin-dependent fasting hyperglycemia. It is treated with diet only, and complications are extremely rare. We present a report of a family with MODY2 caused by a novel NM_000162.3:c.878T>C mutation in exon 8 of the GCK gene. Testing for MODY2 and reporting all novel mutations are important to avoid difficulties in the interpretation of genetic test results and to provide fast and definitive diagnosis for all patients with this disease.

PMID:
23155715
DOI:
10.1515/jpem-2012-0137
[Indexed for MEDLINE]
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