Table 1

Characteristics of patients diagnosed with monogenic diabetes and details of mutations found for those recruited but diagnosed with monogenic diabetes prior to the study and those diagnosed as a result of the biomarker pathway

IDGenetic characteristicsClinical characteristics
GeneMethodZygosityDNA level descriptionAge at diagnosis (years)TreatmentParent with diabetesBMIHbA1cAge at recruitment (years)Additional clinical features
Recruited but diagnosed prior to the UNITED study
 211GCKSangerHetc.97_117dup3DietYes34.04816
 523GCKSangerHetc.97_117dup27DietNo51.75543
 537GCKSangerHetc.683C>T11DietYes13
 538GCKSangerHetc.683C>T9DietYes11
 542GCKSangerHetc.184G>A29DietYes38.94839
 543GCKSangerHetc.184G>A4DietYes4
 544GCKSangerHetc.184G>A3DietYes5
 1155GCKSangerHetc.1343G>T25DietYes19.35025
 82095GCKSangerHetc.1019G>T9DietYes21.94514
 535HNF1ASangerHetc.379_381del24OHAYes25.95147
 547HNF1ASangerHetc.1748G>A22DietYes24.44030Low renal threshold
 554HNF1ASangerHetc.872dup18OHAYes308639
 566HNF1ASangerHetc.872dup17OHAYes29.25142Sulphonylurea sensitivity, low renal threshold
 603HNF1ASangerHetc.1420C>T20OHAYes26.55642Low renal threshold
 617HNF1ASangerHetc.779C>T25DietYes25.44426
 892HNF1ASangerHetc.476G>A14InsulinYes30.06340
 1370HNF1ASangerHetc.872dup21DietYes36.18321
 1409HNF1ASangerHetc.872dup21OHA+InsYes32.89542Sulphonylurea sensitivity
 80480HNF1ASangerHetc.1093_1107+6del19OHA22.97340
 82261HNF1ASangerHetc.185del12OHA+InsYes23.77325Low renal threshold
 82276HNF1ASangerHetc.434C>T13InsulinYes23.86027
 82301HNF1ASangerHetc.1340C>T20OHAYes27.49137
 82310HNF1ASangerHetc.185del18OHAYes24.44845Low renal threshold
 82374HNF1ASangerHetc.1093_1107+6del19OHAYes23.88320Sulphonylurea sensitivity
 82258HNF4ASangerHetc.322G>A28InsulinYes20.96031
 600HNF1BSangerHetc.982_986del20InsulinNo23.412235Renal cysts
 82033HNF1BSangerHetc.466A>G17InsulinNo25.35435Genital tract malformations, renal hypoplasia
 82006KCNJ11SangerHetc.601C>T0OHANo26.63335Diagnosed at 12 weeks of age
 539LMNASangerHetc.1930C>T17OHA+InsYes24.211449Lipodystrophy
 595LMNASangerHetc.1444C>T21OHA+InsYes25.16234
 6043243Hpm.3243A>G27InsulinYes26.95436
 805413243Hpm.3243A>G28InsulinYes26.48348
 823993243Hpm.3243A>G29InsulinYes26.45641Deafness
 540NEUROD1SangerHetc.616dup21OHA+InsYes49.88336Lipodystrophy and necrobiosis
Identified as part of the biomarker pathway
 82372GCKSangerHetc.1340G>A18DietNo25.54619
 82316HNF4ASangerHetc.1064–5_1070del14DietYes32.33833
 377HNF4ASangerHetc.-12G>A11InsulinYes28.410414
 80089HNF1ASangerHetc.1349dup30InsulinYes31.07248
 80170HNF1ASangerHetc.391C>T21InsulinNo23.55235Low renal threshold
 80173HNF1ASangerHetc.495G>C17InsulinYes24.55646
 82003HNF1ASangerHetc.28A>C26DietYes29.87326
 82352HNF1ASangerHetc.814C>T13InsulinYes32.39145
 82013HNF1AtNGSHetc.-258A>G24OHAYes39.67543
 307HNF1BtNGSHetc.1-?_1674+?del29InsulinNo22.76231Asperger syndrome, renal cysts, low fecal elastase, low magnesium
 82014NEUROD1tNGSHetc.616dup21OHANo35.38831
 183NEUROD1tNGSHetc.616dup29InsulinNo27.15546
 820103243tNGSHpm.3243A>G27OHA+InsYes28.69146
 82038PPARGtNGSHetc.1154G>A22OHANo26.65336Lipodystrophy, acanthosis
 80925TRMT10AtNGSHomc.79G>T23OHA+InsNo33.06928Microcephaly, learning difficulties, epilepsy
 17WFS1tNGSC/Hetc.874C>T & c.877del20Insulinn/k21.84224Bilateral optic atrophy, neurogenic bladder, diet treatment, muscle pain on exercise
 175POLD1ExomeHetc.1812–1814del14OHANo18.63021Total lipodystrophy, sensorineural deafness, mandibular hypoplasia, hypogonadism, undescended testes, severe insulin resistance
  • References for the genes and further details of the mutations are in Supplementary Table 3.

  • C/Het, compound heterozygous; Het, heterozygous; Hom, homozygous; Hp, Hp gene deletion; Ins, insulin; OHA, oral hypoglycemic agent; tNGS, targeted next-generation sequencing.