Causative gene | Number | Nucleotide | Amino acid | Allele | Status | Inheritance | ||
Change | Type | Change | Type | |||||
KCNJ11 | 6 | c.602G>A | Replacement | p.Arg201His | Missense | HET | Known | De novo or paternal (case 5) |
6 | c.175G>A | Replacement | p.Val59Met | Missense | HET | Known | De novo | |
3 | c.601C>T | Replacement | p.Arg201Cys | Missense | HET | Known | De novo | |
2 | c.685G>A | Replacement | p.Glu229Lys | Missense | HET | Known | De novo | |
2 | c.137A>G | Replacement | p.His46Arg | Missense | HET | Known | De novo | |
1 | c.53C>G | Replacement | p.Ala18Gly | Missense | HET | Novel | De novo | |
1 | c.989A>G | Replacement | p.Tyr330Cys | Missense | HET | Known | De novo | |
1 | c.124T>C | Replacement | p.Cys42Arg | Missense | HET | Known | De novo | |
ABCC8 | 1 | c.1183A>T | Replacement | p.Ile395Phe | Missense | HET | Known | De novo |
1 | c.3763G>A | Replacement | p.Gly1255Ser | Missense | HET | Known | De novo | |
1 | c.752G>A c.1399A>T | Replacement Replacement | p.Gly251Glu p.Ile467Phe | Missense Missense | CH | Novel Novel | Maternal Paternal | |
GCK | 1 | c.483+2T>A | Replacement | NA | Splicing | HET | Known | Paternal* |
1 | c.544G>A | Replacement | p.Val182Met | Missense | HET | Known | Paternal* | |
1 | c.683C>T | Replacement | p.Thr228Met | Missense | HET | Known | Maternal* | |
INS | 2 | c.94G>A | Replacement | p.Gly32Ser | Missense | HET | Known | De novo |
1 | c.265C>T | Replacement | p.Arg89Cys | Missense | HET | Known | De novo | |
BSCL2 | 1 | c.565G>T c.782dupG | Replacement Small insertion | p.Glu189* p.Ile262Hisfs*12 | Nonsense Frameshift | CH | Known Known | Paternal Maternal |
Number | Region | Type | Status | Previous literature | Inheritance | |||
Chromosome abnormalities | 3 | Chromosome 6q24 (loss of heterozygosity) | pUPD | pUPD | Known to cause NDM | De novo | ||
1 | Chromosome 6q24.2 (154 Kb duplication) | Gross duplication | HET | Known to cause NDM | De novo | |||
1 | Chromosome 1p36.23p36.12 (11.76 Mb deletion) | Gross deletion | HET | Susceptibility locus of T1D | De novo | |||
1 | Chromosome 17p13.3 (183 Kb duplication) | Gross duplication | HET | – | De novo | |||
1 | Chromosome 4p15.1 (4.78 Mb duplication) | Gross duplication | HET | Associated with T2D | De 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.