A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases
Abstract
:1. Introduction
1.1. GCK-MODY (MODY2)
1.2. MODY Prevalence
2. Materials and Methods
2.1. Patients
2.2. Methods
2.3. Variant Confirmation
2.4. Variant Filtering and Interpretation
2.5. Clinical Data Collection
3. Results
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Gene | No. of Index Patients with ‘P’/’LP’ Mutations | No. of Index Patients and Their Family Members with ‘P’/’LP’ Mutations |
---|---|---|
GCK | 91 (68.9%) | 163 (71.8%) |
HNF1A | 30 (22.7%) | 48 (21.1%) |
other MODY-causing gene 1 | 11 (8.3%) | 16 (7.0%) |
Total | 132 (100.0%) | 227 (100.0%) |
Nucleotide Change | Protein Change | Exon/Intron | Function | ACMG | ACMG Evidence | ClinVar | gnomAD Alleles (MAF) | Pr/FM | Family ID | Novel/Known | Reference |
---|---|---|---|---|---|---|---|---|---|---|---|
c.98T > C | p.Val33Ala | exon 2 | Missense | Pathogenic | PM1 (2); PM2 (2); PM5 (1); PP2 (1); PP3 (1); PP5 (3) | Pathogenic (1) | N/A | 2/0 | F306, F454 | known | [24] |
c.106C > T | p.Arg36Trp | exon 2 | Missense | Pathogenic | PM1 (2); PM2 (2); PM5 (1); PP1 (2); PP2 (1); PP3 (1); PP5 (3) | Pathogenic/ Likely pathogenic (4) | 4 (0.00001414) | 5/4 | F028, F105, F310, F433, F434 | known | [25] |
c.115_117delAAG | p.Lys39del | exon 2 | In-Frame | Pathogenic | PM1 (2); PM2 (2); PM4 (2); PP1 (3) | N/A | N/A | 1/2 | F044 | known | [26] |
c.130G > A | p.Gly44Ser | exon 2 | Missense | Pathogenic | PM1 (2); PM2 (2); PM5 (1); PP1 (3); PP2 (1); PP3 (1); PP5 (3) | Pathogenic (1) | N/A | 1/3 | F133 | known | [27] |
c.171G > T | p.Met57Ile | exon 2 | Missense | Pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1); PP5 (3); PS1 (1) | Pathogenic (1) | N/A | 1/0 | F463 | novel | |
c.208G > A | p.Glu70Lys | exon 2 | Missense/Splicing | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1); PP5 (1) | N/A | N/A | 1/0 | F389 | known | [28] |
c.209-1G > A | Splice | intron 2 | Splicing | Likely pathogenic | PM2 (2); PVS1 (4) | N/A | 1 (0.00003186) | 1/0 | F499 | novel | |
c.215G > C | p.Gly72Ala | exon 3 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (2); PP1 (2); PP2 (1); PP3 (1) | N/A | N/A | 2/3 | F069, F274 | novel | |
c.232G > C | p.Asp78His | exon 3 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/3 | F006 | known | [29] |
c.244A > C | p.Thr82Pro | exon 3 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (1); PP2 (1); PP3 (1) | N/A | N/A | 1/1 | F472 | known | [30] |
c.266T > G | p.Val89Gly | exon 3 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/1 | F213 | novel | |
c.371A > T | p.Asp124Val | exon 4 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (1); PP1 (1); PP2 (1); PP3 (1); PP5 (2) | Likely pathogenic (1) | N/A | 1/1 | F083 | novel | |
c.425A > C | p.Lys142Thr | exon 4 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/0 | F250 | novel | |
c.437T > G | p.Leu146Arg | exon 4 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/0 | F018 | known | [31] |
c.457C > T | p.Pro153Ser | exon 4 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP1 (1); PP2 (1); PP3 (1) | Uncertain significance (2) | N/A | 1/1 | F103 | known | [32] |
c.460G > A | p.Val154Met | exon 4 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP1 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/1 | F381 | novel | |
c.494T > C | p.Leu165Pro | exon 5 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1) | N/A | N/A | 2/0 | F092, F291 | known | [33] |
c.501G > C | p.Trp167Cys | exon 5 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/0 | F349 | novel | |
c.518C > A | p.Ala173Asp | exon 5 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/0 | F002 | novel | |
c.562G > A | p.Ala188Thr | exon 5 | Missense | Pathogenic | PM1 (2); PM2 (2); PM5 (1); PP1 (2); PP2 (1); PP3 (1); PP5 (3) | Pathogenic (2) | 1 (0.000003982) | 2/2 | F101, F173 | known | [34] |
c.572G > C | p.Arg191Pro | exon 5 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/0 | F374 | novel | |
c.599T > C | p.Val200Ala | exon 6 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/0 | F094 | known | [10] |
c.617C > T | p.Thr206Met | exon 6 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (2); PP1 (2); PP2 (1); PP3 (1); PP5 (1) | N/A | 1 (0.000003977) | 2/2 | F031, F116 | known | [35] |
c.620T > C | p.Val207Ala | exon 6 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/0 | F316 | novel | |
c.622G > T | p.Ala208Ser | exon 6 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (1); PP2 (1); PP3 (1) | N/A | N/A | 1/0 | F205 | novel | |
c.623C > T | p.Ala208Val | exon 6 | Missense | Pathogenic | PM1 (2); PM2 (2); PM5 (1); PP1 (3); PP2 (1); PP3 (1) | Uncertain significance (1) | 1 (0.000003977) | 1/2 | F227 | known | [36] |
c.626C > T | p.Thr209Met | exon 6 | Missense | Pathogenic | PM1 (2); PM2 (2); PP1 (2); PP2 (1); PP3 (1); PP5 (3) | Pathogenic (1) | N/A | 3/1 | F041, F042, F153 | known | [25] |
c.649G > A | p.Asp217Asn | exon 6 | Missense | Likely pathogenic | BS4 (1); PM1 (2); PM2 (2); PP2 (1); PP3 (1) | Uncertain significance (4) | 1 | 1/0 | F150 | known | [37] |
c.660C > A | p.Cys220* | exon 6 | Nonsense | Likely pathogenic | PM2 (2); PVS1 (4) | N/A | N/A | 1/0 | F165 | known | [38] |
c.668G > A | p.Gly223Asp | exon 6 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/2 | F411 | novel | |
c.677T > A | p.Val226Glu | exon 6 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (2); PP1 (2); PP2 (1); PP3 (1) | N/A | N/A | 2/2 | F101, F173 | known | [39] |
c.683C > T | p.Thr228Met | exon 7 | Missense | Pathogenic | PM1 (2); PM2 (2); PM5 (1); PP2 (1); PP3 (1); PP5 (3) | Pathogenic (5) | 1 (0.000003999) | 1/0 | F065 | known | [40] |
c.702C > A | p.Tyr234* | exon 7 | Nonsense | Pathogenic | PM2 (2); PP1 (2); PVS1 (4) | N/A | N/A | 2/2 | F011, F244 | known | [41] |
c.709_711delGAG | p.Glu237del | exon 7 | In-frame | Likely pathogenic | PM1 (2); PM2 (2); PM4 (2); PP1 (2) | N/A | N/A | 2/1 | F070, F246 | novel | |
c.724G > T | p.Glu242* | exon 7 | Nonsense | Pathogenic | PM2 (2); PP1 (3); PVS1 (4) | N/A | N/A | 1/3 | F382 | novel | |
c.730G > A | p.Val244Met | exon 7 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1); PP5 (1) | Conflicting (1 LP, 1 VUS) | N/A | 1/0 | F400 | novel | |
c.742G > A | p.Glu248Lys | exon 7 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1); PP5 (1) | N/A | 1 (0.000003982) | 1/0 | F219 | known | [42] |
c.752T > G | p.Met251Arg | exon 7 | Missense | Pathogenic | PM1 (2); PM2 (2); PM5 (1); PP1 (3); PP2 (1); PP3 (1) | N/A | N/A | 1/4 | F145 | known | [10] |
c.778T > G | p.Phe260Val | exon 7 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (1); PP2 (1); PP3 (1) | N/A | N/A | 2/2 | F408, F455 | known | [43] |
c.781G > A | p.Gly261Arg | exon 7 | Missense | Pathogenic | PM1 (2); PM2 (2); PP1 (1); PP2 (1); PP3 (1); PP5 (3); PS1 (3) | Pathogenic (4) | 1 (0.000003983) | 4/1 | F126, F191, F202, F272 | known | [40] |
c.781G > C | p.Gly261Arg | exon 7 | Missense | Pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1); PP5 (3); PS1 (3) | Pathogenic (1) | N/A | 1/0 | F108 | known | [44] |
c.790G > A | p.Gly264Ser | exon 7 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1); PP5 (1) | Pathogenic (1) | N/A | 2/0 | F080, F216 | known | [35] |
c.793G > T | p.Glu265* | exon 7 | Nonsense | Pathogenic | PM2 (2); PP1 (1); PP5 (3); PVS1 (4) | Pathogenic (2) | N/A | 1/1 | F035 | known | [45] |
c.822C > A | p.Asp274Glu | exon 7 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1) | N/A | 1 (0.000003992) | 1/0 | F280 | novel | |
c.824G > C | p.Arg275Pro | exon 7 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (1); PP2 (1); PP3 (1) | N/A | N/A | 1/0 | F107 | novel | |
c.863T > C | p.Leu288Pro | exon 7 | Missense/splicing | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/1 | F403 | novel | |
c.869A > G | p.Glu290Gly | exon 8 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP1 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/0 | F375 | novel | |
c.872A > T | p.Lys291Met | exon 8 | Missense | Pathogenic | PM1 (2); PM2 (2); PM5 (1); PP1 (3); PP2 (1); PP3 (1) | N/A | N/A | 2/6 | F043, F046 | novel | |
c.884G > A | p.Gly295Asp | exon 8 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP1 (1); PP2 (1); PP3 (1) | N/A | N/A | 1/1 | F038 | known | [39] |
c.886A > C | p.Lys296Gln | exon 8 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1) | N/A | 2 (0.000008008) | 1/0 | F296 | novel | |
c.908G > A | p.Arg303Gln | exon 8 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (1); PP2 (1); PP3 (1); PP5 (2) | Likely pathogenic (1) | N/A | 1/1 | F167 | known | [46] |
c.952G > A | p.Gly318Arg | exon 8 | Missense | Pathogenic | PM1 (2); PM2 (2); PM5 (1); PP1 (3); PP2 (1); PP3 (1); PP5 (3) | Pathogenic (1) | N/A | 3/5 | F016, F209, F353 | known | [47] |
c.982delG | p.Gly328Glufs*25 | exon 8 | Frameshift | Pathogenic | PM2 (2); PP1 (3); PVS1 (4) | N/A | N/A | 2/5 | F085, F162 | novel | |
c.989T > C | p.Phe330Ser | exon 8 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP1 (1); PP2 (1); PP3 (1) | Uncertain significance (1) | N/A | 1/1 | F122 | known | [48] |
c.1019G > A | p.Ser340Asn | exon 8 | Missense/ splicing | Likely pathogenic | PM1 (2); PM2 (2); PM5 (1); PP1 (2); PP2 (1); PP3 (1) | N/A | N/A | 5/4 | F027, F062, F163, F187, F197 | known | [32] |
c.1019G > C | p.Ser340Thr | exon 8 | Missense/ splicing | Likely pathogenic | PM1 (2); PM2 (2); PM5 (1); PP1 (1); PP2 (1); PP3 (1) | N/A | N/A | 1/1 | F435 | known | [49] |
c.1019 + 1G > T | Splice | intron 8 | Splicing | Likely pathogenic | PM2 (2); PVS1 (3) | N/A | N/A | 1/0 | F131 | known | [50] |
c.1130G > C | p.Arg377Pro | exon 9 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/0 | F482 | novel | |
c.1139A > C | p.His380Pro | exon 9 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP1 (1); PP2 (1); PP3 (1) | N/A | N/A | 1/1 | F200 | novel | |
c.1186_1193delAGCCGCAG | p.Ser396Argfs*60 | exon 9 | Frameshift | Likely pathogenic | PM2 (2); PVS1 (4) | N/A | N/A | 1/0 | F314 | novel | |
c.1225G > C | p.Asp409His | exon 9 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP1 (1); PP2 (1); PP3 (1) | N/A | N/A | 1/1 | F113 | novel | |
c.1268T > C | p.Phe423Ser | exon 10 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (1); PP2 (1); PP3 (1) | Uncertain significance (1) | N/A | 1/0 | F275 | known | [51] |
c.1340G > A | p.Arg447Gln | exon 10 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (1); PP1 (2); PP2 (1); PP3 (1); PP5 (2) | Likely pathogenic (1) | N/A | 2/2 | F201, F373 | known | [29,42] |
c.1340G > C | p.Arg447Pro | exon 10 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PM5 (1); PP2 (1); PP3 (1) | Uncertain significance (1) | N/A | 1/0 | F273 | known | [52] |
c.1355T > G | p.Val452Gly | exon 10 | Missense | Likely pathogenic | PM1 (2); PM2 (2); PP2 (1); PP3 (1) | N/A | N/A | 1/0 | F263 | novel |
Consequence | No. of Mutations |
---|---|
Missense | 51 (78.5%) |
Missense and/or splicing | 4 (6.2%) |
Splicing | 21 (3.1%) |
Nonsense | 4 (6.2%) |
Frameshift | 2 (3.1%) |
In-frame | 2 (3.1%) |
Family ID | Sample ID | Age at Diagnosis of Diabetes | Age at Receiving Genetic Dg | BMI * | Obesity | Complications | Therapy BEFORE Genetic Diagnosis | FPG (0′) (mmol/L) | PPG (120′) (mmol/L) | HbA1c % (mmol/mol) | MODY Calculator (%) | Family Screening |
---|---|---|---|---|---|---|---|---|---|---|---|---|
F002 | P002 | 32 | 47 | 26.2 | no | none | OAD—metformin | 7.3 | N/A | 6.3 (45.4) | 15.1 | no family members tested |
F006 | P015 | 31 | N/A | 23 | no | none | insulin | 6.8 | 19.0 | 6.7 (49.7) | 12.6 | multiple generations affected |
F006 | P016 | 46 | N/A | 33 | yes | IHD, PAD | insulin | 7.0 | 12.0 | 8.2 (66.1) | N/A | multiple generations affected |
F006 | P017 | 3 | 4 | 15.6 | no | none | diet | 6.0 | 9.0 | N/A | N/A | multiple generations affected |
F006 | P018 | no diabetes | 1 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F011 | P028 | 17 | 27 | 19.8 | no | none | OAD—acarbose | 7.0 | 6.0 | 6.2 (44.3) | 75.5 | multiple generations affected |
F011 | P029 | 42 | 53 | 24.7 | no | none | OAD— sulphonylurea | 9.2 | 5.2 | 6.5 (47.5) | N/A | multiple generations affected |
F011 | P030 | 2 | 3 | 15.4 | no | none | diet | 6.7 | N/A | N/A | N/A | multiple generations affected |
F016 | P037 | childhood | 30 | 25 | no | none | OAD—metformin | 5.8 | 6.2 | 6.6 (48.6) | N/A | multiple generations affected |
F016 | P038 | no diabetes | 3 | N/A | N/A | none | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F016 | P040 | 15 | 33 | N/A | N/A | none | diet | 7.6 | N/A | N/A | N/A | multiple generations affected |
F016 | P041 | N/A | 5 | N/A | N/A | none | diet | 5.8 | 8.1 | 6.1 (43.2) | N/A | multiple generations affected |
F016 | P042 | N/A | 55 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F016 | P044 | N/A | 14 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F018 | P047 | 10 | 14 | N/A | N/A | none | diet | 6.5 | N/A | 6.3 (45.4) | N/A | no family members tested |
F027 | P063 | N/A | 25 | N/A | N/A | none | diet | 6.1 | 8.8 | 6.2 (44.3) | N/A | no family members tested |
F028 | P064 | 10 | 12 | 19.4 | no | none | N/A | 7.1 | 8.5 | N/A | N/A | multiple generations affected |
F028 | P065 | N/A | 11 | 23.2 | no | none | OAD—metformin | 6.2 | 7.1 | 6.5 (47.5) | N/A | multiple generations affected |
F028 | P066 | N/A | 41 | N/A | N/A | none | none | 6.7 | 6.7 | N/A | N/A | multiple generations affected |
F031 | P069 | 8 | 11 | 16.2 | no | none | OAD—metformin | 7.6 | 7.9 | 6.7 (49.7) | 75.5 | multiple generations affected |
F031 | P070 | 27 | 40 | N/A | N/A | N/A | diet | N/A | N/A | N/A | N/A | multiple generations affected |
F035 | P074 | 8 | 11 | 19.1 | no | none | diet | 6.0 | 15.2 | 6.2 (43.2) | 75.5 | multiple generations affected |
F035 | P075 | 26 | 40 | 23.2 | no | N/A | OAD—metformin | N/A | N/A | N/A | N/A | multiple generations affected |
F038 | P078 | N/A | 36 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F038 | P079 | 7 | 12 | 15.2 | no | none | none | 6.5 | 8.6 | N/A | N/A | multiple generations affected |
F041 | P082 | 8 | 10 | 14.31 | no | none | diet | 8.1 | 11.6 | 6.2 (44.3) | 75.5 | de novo |
F042 | P085 | 4 | 7 | 15.7 | no | none | diet | 6.0 | 8.5 | 6.4 (46.4) | 75.5 | siblings positive, parents not tested |
F042 | P086 | 1 | 1 | N/A | N/A | N/A | N/A | N/A | N/A | 4.8 (29.0) | N/A | siblings positive, parents not tested |
F043 | P088 | 20 | 34 | 21.5 | no | none | diet | 7.9 | N/A | 6.4 (46.4) | 75.5 | no family members tested |
F044 | P089 | 14 | 17 | 24 | no | none | insulin | 5.1 | N/A | 6.8 (50.8) | 49.4 | multiple generations affected |
F044 | P090 | N/A | 48 | 29.5 | no | renal cysts | N/A | 6.9 | N/A | 6.7 (49.7) | N/A | multiple generations affected |
F044 | P091 | 46 | 69 | 21 | no | TIA, glaucoma, osteoporosis | OAD—metformin | 5.1 | N/A | 6.6 (48.6) | N/A | multiple generations affected |
F046 | P104 | 18 | 45 | 22.0 | no | none | none | N/A | N/A | 5.5 (36.6) | 75.5 | multiple generations affected |
F046 | P105 | 13 | 18 | 23.7 | no | none | insulin | 7.3 | 11.2 | 6.7 (49.7) | 49.4 | multiple generations affected |
F046 | P106 | 14 | 24 | 18.5 | no | none | insulin | 6.0 | 9.5 | 6.2 (44.3) | 75.5 | multiple generations affected |
F046 | P108 | 15 | 20 | 19.4 | no | none | insulin | 7.7 | 8.7 | 7.0 (53.0) | 8.2 | multiple generations affected |
F046 | P113 | N/A | 1 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F046 | P738 | N/A | 3 | 15.5 | no | none | none | 5.7 | N/A | 6.0 (42.1) | N/A | multiple generations affected |
F046 | P739 | N/A | 6 | 15.7 | no | none | none | 5.8 | N/A | 6.1 (43.2) | N/A | multiple generations affected |
F062 | P128 | 3 | 3 | N/A | N/A | none | none | 6.0 | 5.4 | N/A | N/A | multiple generations affected |
F062 | P129 | no diabetes | 1 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F062 | P130 | no diabetes | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F065 | P133 | 11 | 23 | 30 | yes | N/A | insulin | N/A | N/A | 6.6 (48.6) | 12.6 | no family members tested |
F069 | P141 | 16 | 18 | 18.7 | no | none | OAD—metformin | 6.8 | N/A | 5.7 (38.8) | 75.5 | multiple generations affected |
F069 | P142 | N/A | 51 | N/A | N/A | N/A | N/A | 6.9 | N/A | 6.4 (46.4) | N/A | multiple generations affected |
F069 | P143 | N/A | 64 | N/A | N/A | N/A | N/A | 7.1 | N/A | 6.4 (46.4) | N/A | multiple generations affected |
F070 | P144 | N/A | 23 | 18.7 | no | ligament tear | OAD—metformin | 7.1 | N/A | 6.0 (42.1) | N/A | no family members tested |
F080 | P138 | N/A | 8 | N/A | N/A | N/A | N/A | 5–7 | N/A | N/A | N/A | no family members tested |
F083 | P157 | N/A | 24 | N/A | N/A | PCOS | none | 6.9 | 7.9 | N/A | N/A | multiple generations affected |
F083 | P158 | 15 | 50 | N/A | N/A | N/A | OAD—metformin | 7.78 | N/A | 6.3 (45.4) | N/A | multiple generations affected |
F085 | P160 | 16 | 18 | 20.1 | no | none | diet | 7.1 | 7.9 | 6.8 (50.8) | 75.5 | multiple generations affected |
F085 | P161 | 15 | 32 | 17.8 | no | none | diet | 6 | N/A | 6.1 (43.2) | 75.5 | multiple generations affected |
F085 | P162 | 2 | 2 | N/A | N/A | granuloma annulare | diet | 6.1 | N/A | 6.1 (43.2) | N/A | multiple generations affected |
F092 | P170 | N/A | 15 | N/A | N/A | none | diet | 6.6 | 9.4 | 6.5 (47.5) | N/A | no family members tested |
F094 | P172 | 10 | 15 | 19.4 | no | none | diet | 7.2 | 9.6 | 6.4 (46.4) | 75.5 | parents not tested |
F101 | P192 | 6 | 7 | 13.4 | no | none | none | 6.0 | 10.0 | 6.0 (42.1) | 75.5 | multiple generations affected |
F101 | P193 | no diabetes | 46 | normal | no | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F103 | P196 | 5 | 6 | 17 | no | none | diet | 6.2 | 5.8 | 6.3 (45.4) | 75.5 | multiple generations affected |
F103 | P197 | 36 | 42 | 24 | no | none | insulin | 6.9 | 13.6 | 6.0 (42.1) | N/A | multiple generations affected |
F105 | P199 | 9 | 14 | 20.9 | no | N/A | diet | 7.3 | N/A | N/A | N/A | multiple generations affected |
F105 | P200 | 25 | 37 | 30.1 | yes | none | none | N/A | N/A | N/A | N/A | multiple generations affected |
F105 | P202 | N/A | 6 | 15.1 | no | none | none | N/A | N/A | N/A | N/A | multiple generations affected |
F107 | P204 | 16 | 17 | 19 | no | none | diet | 7.9 | 8.8 | 7.0 (53.0) | 75.5 | no family members tested |
F108 | P205 | 21 | 30 | 15.1 | no | none | insulin | 6.2 | 10.4 | 6.0 (42.1) | 75.5 | no family members tested |
F113 | P210 | 12 | 17 | 17 | no | none | insulin | N/A | N/A | 6.3 (45.4) | 12.6 | multiple generations affected |
F113 | P211 | 43 | 45 | 22.2 | no | none | diet | 6.9 | 9.2 | 6.3 (45.4) | N/A | multiple generations affected |
F116 | P214 | 7 | 19 | 19.8 | no | headache, elevated RR | OAD—metformin | 5.8 | 14 | 6.8 (50.8) | 75.5 | cousin positive, parents not tested |
F116 | P215 | 9 | 15 | 21.1 | no | none | diet | 5.8 | 6.4 | 6.5 (47.5) | 75.5 | cousin positive, parents not tested |
F122 | P222 | 14 | 20 | 25 | no | N/A | diet | 6.5 | N/A | 6.2 (44.3) | 75.5 | siblings positive, parents not tested |
F122 | P223 | 14 | 24 | 24 | no | none | diet | 6.3 | N/A | N/A | N/A | siblings positive, parents not tested |
F126 | P227 | 14 | 36 | 22.5 | no | PCOS | OAD—metformin | 5.9 | >11 | 5.8 (39.9) | 75.5 | no family members tested |
F131 | P232 | 19 | 28 | 19.4 | no | none | none | 8.4 | N/A | 6.8 (50.8) | 75.5 | no family members tested |
F133 | P236 | 13 | 14 | 19 | no | none | diet | 6.4 | 9.4 | 6.4 (46.4) | 75.5 | multiple generations affected |
F133 | P237 | 11 | 18 | 19 | no | none | insulin | N/A | N/A | 6.4 (46.4) | 8.2 | multiple generations affected |
F133 | P240 | 31 | 42 | 21 | no | none | OAD | 7.8 | 10.00 | 6.4 (46.4) | 58 | multiple generations affected |
F133 | P241 | 57 | 63 | 38 | yes | IHD | OAD | 8.7 | 10 | N/A | N/A | multiple generations affected |
F145 | P257 | 6 | 12 | 15.2 | no | none | insulin | N/A | N/A | 7.1 (54.1) | 12.6 | multiple generations affected |
F145 | P258 | 37 | 38 | N/A | N/A | N/A | N/A | 7.3 | 7.8 | 5.8 (39.9) | N/A | multiple generations affected |
F145 | P259 | no diabetes | 2016 | N/A | N/A | none | N/A | 7.0 | 5.9 | N/A | N/A | multiple generations affected |
F145 | P260 | 4 | 5 | N/A | N/A | none | none | N/A | 9.7 | 6.8 (50.8) | N/A | multiple generations affected |
F145 | P261 | 39 | 40 | 24.3 | no | N/A | N/A | 7.2 | 5.9 | 6.3 (45.4) | N/A | multiple generations affected |
F150 | P266 | 35 | 59 | 21.6 | no | none | OAD—metformin | 10.1 | N/A | 7.4 (57.4) | 15.1 | parents not tested |
F153 | P271 | 9 | 16 | 23.6 | no | none | diet | 6.9 | 12.0 | 6.2 (44.3) | 75.5 | no family members tested |
F162 | P280 | 9 | 12 | 32.4 | yes | acanthosis nigricans | OAD—metformin | N/A | N/A | 6.5 (47.5) | 75.5 | multiple generations affected |
F162 | P281 | 3 | 4 | 14.1 | no | N/A | diet | 4.7 | 5.7 | 6.4 (46.4) | 75.5 | multiple generations affected |
F162 | P282 | N/A | 2 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F162 | P283 | no diabetes | 21 | N/A | N/A | N/A | none | 5.4 | 6.2 | N/A | N/A | multiple generations affected |
F163 | P284 | 7 | 11 | 29.0 | yes | none | none | 10.0 | 6.3 | 6.2 (44.3) | 75.5 | multiple generations affected |
F163 | P285 | 9 | 13 | 23.5 | no | none | none | 6.6 | 10.9 | 5.9 (41.0) | 75.5 | multiple generations affected |
F163 | P286 | N/A | 43 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F165 | P288 | 10 | 11 | 18.0 | no | N/A | diet | 7 | 10.8 | 5.9 (41.0) | 75.5 | no family members tested |
F167 | P290 | 13 | 13 | 19.2 | no | none | diet | 5.2 | 10.7 | 5.7 (38.8) | 75.5 | multiple generations affected |
F167 | P292 | no diabetes | 48 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F173 | P298 | 1 | 2 | 15 | no | N/A | diet | 5.6 | 9.9 | 6.4 (46.4) | 75.5 | multiple generations affected |
F173 | P299 | 16 | 33 | N/A | N/A | N/A | insulin | N/A | N/A | N/A | N/A | multiple generations affected |
F187 | P319 | 1 | 4 | 16.5 | no | none | none | 6.3—7 | 5.8—7 | 6.5 (47.5) | 75.5 | no family members tested |
F191 | P323 | 1 | 12 | 16.8 | no | none | diet | 6.6 | 7.3 | 6.6 (48.6) | 75.5 | no family members tested |
F197 | P335 | 13 | 27 | 21.9 | no | none | diet | 6.9 | 8.5 | 6.5 (47.5) | 75.5 | no family members tested |
F200 | P338 | 5 | 18 | 17.7 | no | none | diet | 6.17 | 8.3 | 6.8 (50.8) | 75.5 | multiple generations affected |
F200 | P339 | 47 | 51 | 23.9 | no | none | OAD—metformin + sulphonylurea | N/A | N/A | N/A | N/A | multiple generations affected |
F201 | P340 | 23 | 31 | 19.7 | no | none | OAD— sulphonylurea | 6.6 | 11.2 | 6.1 (43.2) | 75.5 | multiple generations affected |
F201 | P341 | 57 | 60 | 30.8 | yes | N/A | diet | 6.9 | 14.5 | 6.3 (45.4) | N/A | multiple generations affected |
F201 | P342 | 22 | 35 | 23.1 | no | none | diet | 7.3 | 9.8 | 5.8 (39.9) | 75.5 | multiple generations affected |
F202 | P343 | 5 | 6 | 17.0 | no | none | none | 6.2 | 8.2 | 6.4 (46.4) | 75.5 | siblings positive, parents not tested |
F202 | P344 | 9 | 10 | 15.4 | no | none | none | 6.5 | 6.9 | 6.9 (51.9) | 75.5 | siblings positive, parents not tested |
F205 | P349 | 4 | 10 | 16.5 | no | none | diet | 5.8 | 8.5 | 5.7 (38.8) | 75.5 | no family members tested |
F209 | P353 | 9 | 43 | 29 | no | none | OAD—metformin | 7.2 | 9.5 | 7.0 (53.0) | 75.5 | no family members tested |
F213 | P357 | N/A | 12 | 17.8 | no | none | diet | 7.1 | 8.6 | 6.2 (44.3) | N/A | multiple generations affected |
F213 | P358 | N/A | 34 | N/A | N/A | N/A | diet | N/A | N/A | N/A | N/A | multiple generations affected |
F216 | P361 | N/A | 14 | 16.2 | no | none | diet | 5.6 | 5.9 | 6.3 (45.4) | N/A | no family members tested |
F219 | P364 | 32 | 39 | 25.2 | no | none | diet | 6.9 | 8.7 | 5.5 (36.6) | 62.4 | parents not tested |
F227 | P373 | 7 | 21 | 25.7 | no | none | insulin | 7.0 | 14.7 | 6.1 (43.2) | 75.5 | multiple generations affected |
F227 | P374 | N/A | 15 | 15.5 | no | N/A | N/A | 6.8 | N/A | N/A | N/A | multiple generations affected |
F227 | P377 | 45 | 51 | 33 | yes | none | OAD—metformin | 7.8 | 8.9 | N/A | N/A | multiple generations affected |
F244 | P394 | 15 | 16 | 17.6 | no | none | diet | 6.5 | 8.8 | 6.2 (44.3) | 75.5 | no family members tested |
F246 | P396 | 6 | 7 | 19.9 | yes | none | none | 6.7 | 9.4 | 6.3 (45.4) | 75.5 | multiple generations affected |
F246 | P398 | no diabetes | 43 | N/A | N/A | N/A | N/A | 7.5 | N/A | 7.0 (53.0) | N/A | multiple generations affected |
F250 | P403 | N/A | 35 | N/A | N/A | cardiac | N/A | N/A | N/A | N/A | N/A | no family members tested |
F263 | P426 | 18 | 31 | 21.5 | no | N/A | OAD—metformin | 6.9 | 8.5 | 6.4 (46.4) | 75.5 | no family members tested |
F272 | P435 | 20 | 22 | 17.4 | no | none | none | 6.7 | 22.9 | 6.0 (42.1) | 75.5 | no family members tested |
F273 | P436 | N/A | 18 | 19.5 | no | N/A | N/A | 5.8 | N/A | N/A | N/A | no family members tested |
F274 | P437 | 5 | 16 | 32.7 | yes | hypertension, obesity | OAD—metformin | 6.5 | 9.4 | 6.5 (47.5) | 75.5 | siblings positive, parents not tested |
F274 | P438 | 2 | 7 | 16.7 | no | none | diet | 6.7 | N/A | 6.4 (46.4) | 75.5 | siblings positive, parents not tested |
F275 | P439 | 8 | 10 | 16.3 | no | none | diet | 6.1 | 8.3 | 6.1 (43.2) | 75.5 | no family members tested |
F280 | P444 | N/A | 10 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | no family members tested |
F291 | P455 | 10 | 16 | 19.2 | no | none | insulin | 6.5 | 11.7 | 6.8 (50.8) | 4 | no family members tested |
F296 | P460 | 13 | 18 | N/A | N/A | none | insulin | N/A | N/A | N/A | N/A | no family members tested |
F306 | P470 | 7 | 8 | 14.6 | no | repeated acute laryngitis | none | 6.10 | N/A | 6.0 (42.0) | 75.5 | no family members tested |
F310 | P477 | 14 | 15 | 22.2 | no | N/A | N/A | N/A | N/A | 6.4 (46.4) | 75.5 | mother no carrier, father not tested |
F314 | P482 | 4 | 6 | 14.9 | no | none | diet | N/A | N/A | 6.0 (42.1) | 75.5 | no family members tested |
F316 | P488 | 30 | 37 | 20.6 | no | none | OAD—metformin | 6.3 | 6.9 | 6.3 (45.4) | 35.8 | no family members tested |
F349 | P532 | 17 | 39 | 20.6 | no | none | OAD—metformin | 5.7 | N/A | 6.4 (46.4) | 75.5 | no family members tested |
F353 | P536 | 14 | 23 | 26.7 | no | none | diet | 6.9 | 9.6 | 6.5 (47.5) | 75.5 | no family members tested |
F373 | P557 | 8 | 18 | 19.2 | no | N/A | diet | 5.7 | 9 | 5.6 (37.7) | 75.5 | no family members tested |
F374 | P558 | 2 | 19 | 20 | no | N/A | diet | 6.0 | 9.4 | 6.7 (49.7) | 75.5 | no family members tested |
F375 | P559 | 8 | 10 | normal | no | none | diet | 7.9 | 9.5 | 6.7 (49.7) | N/A | de novo |
F381 | P570 | 12 | 12 | 21.2 | no | none | diet | 5.3 | 8.8 | 6.8 (50.8) | 75.5 | multiple generations affected |
F381 | P572 | 2 | 41 | 24 | no | N/A | diet | N/A | N/A | N/A | N/A | multiple generations affected |
F382 | P574 | 13 | 13 | 22 | no | none | diet | 7.7 | 9.8 | 6.3 (45.4) | 75.5 | multiple generations affected |
F382 | P575 | N/A | 41 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F382 | P577 | N/A | 61 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F382 | P578 | N/A | 29 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F389 | P586 | 28 | 31 | 20 | no | none | diet | 7.2 | 9.5 | 6.3 (45.4) | 62.4 | no family members tested |
F400 | P598 | 14 | 18 | 21 | no | none | none | 6.7 | 8.9 | 5.7 (38.8) | 75.5 | no family members tested |
F403 | P601 | 10 | 11 | 15.1 | no | none | insulin | 6.0 | 11.0 | 6.3 (45.4) | 12.6 | mother no carrier, father not tested |
F403 | P604 | no diabetes | 7 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | mother no carrier, father not tested |
F408 | P610 | 5 | 18 | 18.7 | no | none | insulin | 7.3 | N/A | 6.4 (46.4) | 1.9 | siblings positive, parents not tested |
F408 | P611 | 14 | 14 | 17.9 | no | none | diet | 7.2 | 8.8 | 7.1 (54.1) | 75.5 | siblings positive, parents not tested |
F411 | P614 | 12 | 12 | 14.7 | no | none | diet | 5.9 | 9.3 | 7.0 (53.0) | 75.5 | multiple generations affected |
F411 | P616 | no diabetes | 11 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F411 | P617 | no diabetes | 42 | 26 | no | none | diet | 7.1 | 9.1 | 6.2 (44.3) | N/A | multiple generations affected |
F433 | P639 | N/A | 13 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | no family members tested |
F434 | P640 | N/A | 10 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | no family members tested |
F435 | P641 | 7 | 13 | 18 | no | none | insulin | N/A | N/A | 7.1 (54.1) | 8.2 | multiple generations affected |
F435 | P642 | 24 | 37 | 24 | no | none | none | N/A | N/A | 7.2 (55.2) | 62.4 | multiple generations affected |
F454 | P665 | 10 | 11 | 17.4 | no | possible coeliac disease | none | 6.2 | 5.9 | N/A | N/A | no family members tested |
F455 | P666 | 3 | 4 | N/A | N/A | N/A | diet | 4.9 | 12.7 | 6.1 (43.2) | N/A | multiple generations affected |
F455 | P667 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F463 | P675 | 20 | 27 | 18.9 | no | none | OAD—metformin + sulphonylurea | 7.2 | N/A | 6.6 (48.6) | 75.5 | no family members tested |
F472 | P684 | 1 | 2 | N/A | N/A | N/A | N/A | 6.4 | 8.6 | 6.9 (51.9) | N/A | multiple generations affected |
F472 | P733 | N/A | 50 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | multiple generations affected |
F482 | P696 | 6 | 6 | 28 | yes | N/A | diet | 6.4 | 11.0 | 6.2 (44.3) | 75.5 | no family members tested |
F499 | P713 | N/A | 21 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | no family members tested |
Therapy | Number of Patients |
---|---|
insulin | 19 (11.7%) |
OAD—sulphonylurea | 2 (1.2%) |
OAD—metformin | 19 (11.7%) |
OAD—metformin and sulphonylurea | 2 (1.2%) |
OAD—acarbose | 1 (0.6%) |
other OAD | 2 (1.2%) |
diet | 56 (34.4%) |
no treatment | 24 (14.7%) |
N/A | 38 (23.3%) |
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Gaál, Z.; Szűcs, Z.; Kántor, I.; Luczay, A.; Tóth-Heyn, P.; Benn, O.; Felszeghy, E.; Karádi, Z.; Madar, L.; Balogh, I. A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases. Life 2021, 11, 771. https://doi.org/10.3390/life11080771
Gaál Z, Szűcs Z, Kántor I, Luczay A, Tóth-Heyn P, Benn O, Felszeghy E, Karádi Z, Madar L, Balogh I. A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases. Life. 2021; 11(8):771. https://doi.org/10.3390/life11080771
Chicago/Turabian StyleGaál, Zsolt, Zsuzsanna Szűcs, Irén Kántor, Andrea Luczay, Péter Tóth-Heyn, Orsolya Benn, Enikő Felszeghy, Zsuzsanna Karádi, László Madar, and István Balogh. 2021. "A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases" Life 11, no. 8: 771. https://doi.org/10.3390/life11080771
APA StyleGaál, Z., Szűcs, Z., Kántor, I., Luczay, A., Tóth-Heyn, P., Benn, O., Felszeghy, E., Karádi, Z., Madar, L., & Balogh, I. (2021). A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases. Life, 11(8), 771. https://doi.org/10.3390/life11080771