Screening of HNF1A and HNF4A mutation and clinical phenotype analysis in a large cohort of Chinese patients with maturity-onset diabetes of the young
Acta Diabetologica Oct 11, 2018
Wang X, et al. - In a large Chinese cohort of high clinical suspicion of maturity-onset diabetes of the young (MODY) patients, researchers sought to screen the HNF1A and HNF4A mutation and characterize the clinical features of those patients. In addition, they assessed the performance of hsCRP as a biomarker to differentiate MODY3 from early onset T2DM. For this investigation, they involved 74 patients with a strong clinical suspicion of MODY from 59 families and 33 newly diagnosed early-onset T2DM. It was noted that the prevalence of HNF1A mutation was relatively lower in Mainland China and HNF4A mutation was rare. In discriminating MODY3 from T2DM, serum hsCRP concentrations performed well. They suggested that molecular diagnosis of MODY3/1 did transform management in clinical practice and facilitated the glycemic control.
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