Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): a novel ABCC8 mutation in a previously screened family

Maturity onset diabetes of the young (MODY) is the most common form of monogenic diabetes, resulting from dominant mutations in one of 14 genes that regulate β‐cell function (hepatocyte nuclear factor 4 alpha [HNF4A], glucokinase [GCK], hepatocyte nuclear factor 1 alpha [HNF1A], pancreatic and duodenal homeobox 1 [PDX1], hepatocyte nuclear factor 1 beta [HNF1B], neurogenic differentiation 1 [NEUROD1], kruppel‐like factor 11 [KLF11], carboxyl‐ester lipase [CEL], paired box gene 4 [PAX4], insulin [INS], B lymphocyte kinase [BLK], ATP binding cassette subfamily C member 8 [ABCC8], Potassium Voltage‐Gated Channel Subfamily J Member 11 [KCNJ11], and adaptor protein, phosphotyrosine interaction, pH domain, and leucine zipper‐containing protein 1[APPL1]).1, 2 Although MODY accounts for 2%–2.5% of childhood diabetes,3 MODY genetic screening is uncommon, even in highly suggestive families, and, when performed, often limited to the most common genes (e.g. HNF1A and GCK).4 Massively parallel sequencing (MPS) now enables cost‐ and time‐efficient comprehensive MODY screening.