| Objective:The aim of this study was to investigate the clinical characteristics and genetic pathogenesis of MODY(maturity onset diabetes of the young)in Chinese population.Methods:Clinical and laboratory data of 49 cases were collected,and MODY probability calculator(MPC)was used to evaluate the possibility of MODY,a panel of monogenic diabetes related genes were screened and pathogenicity of the variants were assessed by bioinformatics prediction software programs and segregation analyses.These cases were divided into MODY group and non-MODY group according to the results of genetic testing and pathogenicity assessment,SPSS 26.0 statistical software was used to analyze their characteristics.Results:Mutations were found in 19/49 participants,among which 16 were pathogenic/likely pathogenic variants.Females accounted for 62.5%,the average age of onset was 20.75 years,the average body mass index was 22.18kg/m2,7 patients(43.7%)had ketosis.In terms of complications,1 patient got both nephropathy and peripheral neuropathy,a total of 2 patients got retinopathy,and 2 patients got peripheral nerves.There was no significant difference between the MODY group and the non-MODY group in clinical characters except the rate of ketosis,the MODY group had a higher rate of ketosis,P<0.05.The positive prediction rate(PPV)calculated by MPC of 6 patients in the MODY group was 62.4%(P=0.949,sensitivity 35.3%,specificity 68.8%,positive predictive value 37.5%,negative prediction value 66.7%).Conclusions:Our study shows heterogeneous in the clinical characteristics of MODY patients.What’s more,compared with non-MODY patient,participants with MODY had a higher incidence of ketosis.We also found that ABCC8 may be a common pathogenic gene leads to MODY in the Chinese population,and the application of MPC in Chinese didn’t show excellent sensitivity and specificity. |
