Table 1.
Study | Country | Participants | Monogenic diabetes type(s) assessed | Outcome |
---|---|---|---|---|
Thomas [19] | UK | 36 adult probands (four non-White Europeans) referred for monogenic diabetes testing | MODY and mitochondrial DM | 20% EMPC cutoff → 50% PPV |
Ang [20] | Singapore | 71 multiethnic Asian adults (59 Chinese, 14 Malay and 11 Indian) preselected on features, ( e.g., pancreatic autoantibody status) to exclude obvious T1DM and T2DM | MODY, monogenic insulin resistance and lipodystrophy | 62% EMPC cutoff → 30% PPV |
Haliloglu [21] | Turkey | 54 Turkish children preselected by criteria including pancreatic autoantibody status | MODY | 75% EMPC cutoff + additional features, e.g. HbA1c → 57% PPV |
Davis [7] | Australia | 25 Australians of mixed ethnicities recruited by various means, e.g., advertising | MODY, NDM | 25% EMPC cutoff → 28% PPV |
Tarantino [22] | Brazil | 34 Brazilian probands with previous clinical diagnosis of monogenic diabetes | GCK-MODY and HNF1A-MODY | 50% EMPC cutoff → 48% PPV; 75% EMPC cutoff → 53% PPV |
Lee [23] | Korea | 40 Korean probands preselected by criteria including pancreatic autoantibody status | MODY, NDM and lipodystrophy | 50% EMPC cutoff → 15% PPV |
Da Silva Santos [24] | Portugal | 73 Portuguese probands preselected by criteria including pancreatic autoantibody status | All monogenic diabetes | 25% EMPC cutoff → 65% PPV; newly derived 36% EMPC cutoff → 74% PPV |
PPV positive predictive value (i.e. mutation detection rate), T1DM type 1 diabetes mellitus and T2DM type 2 diabetes mellitus