J Diabetes. 2018 May 4. doi: 10.1111/1753-0407.12778. [Epub ahead of print]
Clinical usefulness of comprehensive genetic screening in MODY: a novel ABCC8 mutation in a previously screened family.
Maturity-onset diabetes of the young (MODY) is the commonest form of monogenic diabetes, resulting from dominant mutations in one of fourteen genes that regulate beta-cell function (HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8,KCNJ11 and APPL1 1,2 ). MODY accounts for 2-2.5% of childhood diabetes 3 , yet MODY genetic screening is uncommon, even in highly suggestive families, and when performed often limited to the commonest genes (e.g.HNF1A and GCK) 4 .
ABCC8; Massively parallel sequencing; Maturity-onset diabetes of the young; Monogenic diabetes