Diabetes Genes

Targeted Next Generation Sequencing

Analysis of 61 Monogenic Diabetes Genes

The Exeter Molecular Genetics Laboratory offers a customised, targeted next generation sequencing capture assay for variant analysis of 60 known/putative monogenic diabetes genes and the g.3243 region of the mitochondrial genome.  Analysis of a sub-set of genes is performed for paediatric and early adult onset diabetes (including MODY and insulin resistance disorders), neonatal diabetes and autoimmune forms of neonatal diabetes.

For patients with paediatric and early adult onset diabetes a panel of 27 genes is sequenced that includes the genes ABCC8, APPL1, CEL, CISD2, DCAF17, DNAJC3, DYRK1B, GATA4, GATA6, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, NEUROD1, PAX6, PCBD1, PDX1, PIK3R1, PPP1R15B, RFX6, SLC29A3, TRMT10A, WFS1, ZBTB20 and ZFP57, five genes where mutations cause diabetes through severe insulin resistance (LMNA, PPARG, PLIN1, INSR and POLD1) and the mitochondrial mutation g.3243A>G causing maternally inherited diabetes and deafness (MIDD).

A panel of 33 genes is sequenced for patients diagnosed with neonatal diabetes under the age of 6 months (ABCC8, AGPAT2, BSCL2, CISD2, COQ2, COQ9, EIF2S3, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1B, IER3IP1, IL2RA, INS, INSR, KCNJ11, LPL, LRBA, MNX1, NEUROD1, NEUROG3, NKX2-2, PDX1, PTF1A (coding and distal enhancer regions), RFX6, SLC19A2, SLC2A2, STAT3, WFS1 and ZFP57) and a panel of 12 genes is sequenced for patients with neonatal diabetes and autoimmune disease (AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, SIRT1, STAT1, STAT3, STAT5B and TNFAIP3).