Table 2

Genetic spectrum of diabetes identified in this study

Causative geneNumberNucleotideAmino acidAlleleStatusInheritance
ChangeTypeChangeType
KCNJ116c.602G>AReplacementp.Arg201HisMissenseHETKnownDe novo or paternal (case 5)
6c.175G>AReplacementp.Val59MetMissenseHETKnownDe novo
3c.601C>TReplacementp.Arg201CysMissenseHETKnownDe novo
2c.685G>AReplacementp.Glu229LysMissenseHETKnownDe novo
2c.137A>GReplacementp.His46ArgMissenseHETKnownDe novo
1c.53C>GReplacementp.Ala18GlyMissenseHETNovelDe novo
1c.989A>GReplacementp.Tyr330CysMissenseHETKnownDe novo
1c.124T>CReplacementp.Cys42ArgMissenseHETKnownDe novo
ABCC81c.1183A>TReplacementp.Ile395PheMissenseHETKnownDe novo
1c.3763G>AReplacementp.Gly1255SerMissenseHETKnownDe novo
1c.752G>A
c.1399A>T
Replacement
Replacement
p.Gly251Glu
p.Ile467Phe
Missense
Missense
CHNovel
Novel
Maternal
Paternal
GCK1c.483+2T>AReplacementNASplicingHETKnownPaternal*
1c.544G>AReplacementp.Val182MetMissenseHETKnownPaternal*
1c.683C>TReplacementp.Thr228MetMissenseHETKnownMaternal*
INS2c.94G>AReplacementp.Gly32SerMissenseHETKnownDe novo
1c.265C>TReplacementp.Arg89CysMissenseHETKnownDe novo
BSCL21c.565G>T
c.782dupG
Replacement
Small insertion
p.Glu189*
p.Ile262Hisfs*12
Nonsense
Frameshift
CHKnown
Known
Paternal
Maternal
NumberRegionTypeStatusPrevious literatureInheritance
Chromosome abnormalities3Chromosome 6q24 (loss of heterozygosity)pUPDpUPDKnown to cause NDMDe novo
1Chromosome 6q24.2 (154 Kb duplication)Gross duplicationHETKnown to cause NDMDe novo
1Chromosome 1p36.23p36.12 (11.76 Mb deletion)Gross deletionHETSusceptibility locus of T1DDe novo
1Chromosome 17p13.3 (183 Kb duplication)Gross duplicationHETDe novo
1Chromosome 4p15.1 (4.78 Mb duplication)Gross duplicationHETAssociated with T2DDe novo
  • *Only these three parents who carried the deleterious GCK variants had mild hyperglycemia; no obvious abnormality was detected in other parents in this study.

  • CH, compound heterozygous; HET, heterozygous; NA, not available; NDM, neonatal diabetes mellitus; pUPD, paternal uniparental disomy; T1D, type 1 diabetes; T2D, type 2 diabetes.