Abstract
Objective To investigate the clinical characteristics, cause of disease on Chinese maturity-onset diabetes of the young type 2 (MODY2). Methods Four Chinese pedigrees of MODY2 diagnosed by Peking Union Medical College Hospital from February to August in 2013 were analyzed for their clinical features and laboratory data. Genomic DNA of related members in the pedigrees were extracted, followed by amplification with polymerase chain reaction. Then direct sequencing were performed to identify mutations in glucokinase (GCK) gene. Results Totally 10 cases of diabetes and impaired glucose regulation (IGR) caused by GCK mutations were diagnosed in four pedigrees. Age at diagnosis for hyperglycemia was between 5.3 and 44.0 years. Health examination was the most common way to find hyperglycemia. All cases' plasma triglyceride were in the normal range or below the lower limit. Genetic testing for GCK gene found four mutations, two new heterozygous mutation c. 749G>A(R250H) and c. 781G>C(G261R), two previously reported mutation c. 127C>T(R43C) and c. 571C>T(R191W). Conclusion Clinical manifestations are various in Chinese MODY2 patients. GCK gene c. 749G>A mutation may be the cause of MODY2. Key words: Maturity-onset diabetes of the young type 2; Glucokinase; Gene mutation
Published Version
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