Molecular genetic analysis and clinical consideration of two families with GCK gene mutation

Abstract

Objective To explore the molecular genetics and clinical characteristics of two cases of maturity-onset diabetes of the young (MODY) type 2 caused by glucokinase (GCK) gene mutation. Methods Two patients who were admitted into Beijing Jishuitan Hospital with suspected diagnosis of MODY from April 2015 to December 2015 were collected and analyzed by their clinical data. GCK gene sequencing was carried out for the two patients and their family members to find the cause of their disease. Results A new GCK heterozygous mutation p.T82P (c.244 A ＞ C) and a reported GCK heterozygous mutation p.V412M (c.1234 G ＞ A) were found in the two families. In the aspect of clinical manifestations, in addition to stable hyperglycemia, the 3 GCK gene mutation carriers in the two families showed metabolic syndrome of varying degrees. Conclusions GCK gene mutation p.T82P may be the cause of MODY2. The clinical manifestations of GCK gene mutation carriers are complex, and they need to be individualized and managed in treatment and prognosis.

Keywords

• maturity-onset diabetes of the young|glucokinase|gene mutation