Table 2

Characteristics of the 20 patients identified with monogenic diabetes

Study IDGeneMutation#Protein effectGenderAge at diagnosis (years)Diabetes duration (years)*Initial treatmentCurrent treatmentBMI percentileAffected parentUCPCR (nmol/mmol)GADIA2Notes
211GCKc.97_117dupp.(Val33_Lys39dup)M313InsulinNone99thMother3.57N/AN/AKnown MODY
537GCKc.683C>Tp.(Thr228Met)M112DietNoneN/AMother1.94N/AN/AKnown MODY
Sibling of 538
538GCKc.683C>Tp.(Thr228Met)M91DietNoneN/AMother1.73N/AN/AKnown MODY
Sibling of 537
543GCKc.184G>Ap.(Val62Met)M40.2DietNoneN/AMotherN/AN/AN/AKnown MODY
Sibling of 544
544GCKc.184G>Ap.(Val62Met)M32DietNoneN/AMotherN/AN/AN/AKnown MODY
Sibling of 543
1,396GCKc.1209delp.(Ile404fs)M140.3DietNone71stMotherN/AN/AN/AKnown MODY
8,002,095GCKc.1019G>Tp.(Ser340Ile)M95DietNone88thFather0.79NegN/AKnown MODY
8,002,372GCKc.1340G>Ap.(Arg447Gln)M180.6DietNone90thNeitherNot testedNegNot testedNewly identified MODY
599HNF1Ac.608G>Ap.(Arg203His)F140.5OHAOHA99thBoth parents3.08NegNegKnown MODY
1,012HNF1Ac.872delp.(Pro291fs)F100.7DietDiet99thMother5.6NegNegKnown MODY
Sibling of 395
395HNF1Ac.872delp.(Pro291fs)F140.1OHAOHA95thMother5.8NegNegKnown MODY
Sibling of 1012
455HNF1Ac.872dupp.(Gly292fs)F123OHAOHA57thFather0.86NegNegKnown MODY
567HNF1Ac.872dupp.(Gly292fs)M82DietOHA94thMother1.73NegNegKnown MODY
686HNF4Ac.749T>Cp.(Leu250Pro)M160.7DietDiet99thFather4.74N/AN/AKnown MODY
1,348HNF4Ac.340C>Tp.(Arg114Trp)F150.2InsulinOHA86thFather3.00NegNegNewly identified MODY
1,203HNF4Ac.340C>Tp.(Arg114Trp)M72InsulinInsulin39thNeither0.21NegNegDual diagnosis: newly identified HNF4A/known type 1 diabetes
377HNF4Ac.-12G>Ap.(?)F112InsulinInsulin99thMother0.28NegNegNewly identified MODY
854HNF1Bc.1-?_*151+?delp.(0?) (whole gene deletion)M112InsulinInsulin9thFather0.71NegNegNewly identified MODY
555ABCC8c.4139G>Ap.(Arg1380His)F118OHAOHA4thFather3.00NegNegKnown MODY
758INSRc.3706C>Gp.(Pro1236Ala)F123OHADiet55thMother9.07N/AN/AKnown MODY
  • F, female; ID, identification; M, male; N/A, not applicable, genetic diagnosis made prior to study; Neg, negative; OHA, oral hypoglycemic agent.

  • ▪GAD negative, defined in this study as <99th percentile, but GAD 25.9 (97.5th percentile).

  • #Mutations are described using the Human Genome Variation Society nomenclature guidelines according to the following reference sequences: GCK NM_000162.3; HNF1A NM_000545.6; HNF4A NM_175914.4; ABCC8 NM_001287174.1; INSR NM_000208.2.

  • *Diabetes duration at time of study.