TY - JOUR
AU1 - Schlegel, Amnon
AU2 - Petersen, Whitney C
AU3 - Holbrook, Alexandra A
AU4 - Iverson, Leslie K
AU5 - Graham, Timothy E
AB - Monogenetic diabetes mellitus (DM) describes a collection of single-gene diseases marked by hyperglycemia presenting in childhood or adulthood and the absence of immunological markers of type 1 DM. Mutations in the human insulin gene INS give rise to two separate clinical syndromes: permanent neonatal DM, type 4 (PNDM4), and maturity-onset diabetes of youth, type 10 (MODY10); the former presents shortly after birth and the latter presents in childhood and adulthood. We describe a 40-year-old man in a kindred with high prevalence of DM who presented with severe hyperglycemia but not ketoacidosis or hypertriglyceridemia. Twelve years after initial presentation, the patient had elevated proinsulin and normal plasma C-peptide when nearly euglycemic on treatment with insulin glargine. A novel INS mutation, Gln65Arg, within the C-peptide region was identified. The INS (p.Gln65Arg) mutation may cause MODY10 by disrupting proinsulin maturation.
TI - A Novel INS Mutation in the C-Peptide Region Causing Hyperproinsulinemic Maturity Onset Diabetes of Youth Type 10
JF - Laboratory Medicine
DO - 10.1093/labmed/lmac115
DA - 2022-10-15
UR - https://www.deepdyve.com/lp/oxford-university-press/a-novel-ins-mutation-in-the-c-peptide-region-causing-McFCedLgnc
SP - 327
EP - 332
VL - 54
IS - 3
DP - DeepDyve
ER -