title: Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations.
abstract: We present a unique case of a 19-year-old man with a positive family history of persistent mild hyperglycemia and a novel V84I mutation in ABCC8. The proband was initially detected to have fasting hyperglycemia (ranging 6.1-6.4 mmol/L) at the age of 12 years. Increased fasting blood glucose was also subsequently detected in five additional family members (in his twin brother, sister, mother, maternal aunt, and grandfather). The grandfather has been known to have mild diabetes since 30 years and has never been treated. After having excluded a causative mutation in five maturity-onset diabetes of the young genes (MODY1-4 and 6), we identified a novel ABCC8 V84I mutation, which segregated with autosomal dominant transmission of mild hyperglycemia within three generations. This mutation that is located in a conserved area of transmembrane domain TMD0 seems to be a rare cause of clinical phenotype resembling glucokinase-deficient diabetes.
authors.affiliation: Department of Pediatrics, Second Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
authors.forename: Lucie
authors.initials: L
authors.lastname: Gonsorcikova
authors.forename: Martine
authors.initials: M
authors.lastname: Vaxillaire
authors.forename: Stepanka
authors.initials: S
authors.lastname: Pruhova
authors.forename: Aurélie
authors.initials: A
authors.lastname: Dechaume
authors.forename: Petra
authors.initials: P
authors.lastname: Dusatkova
authors.forename: Ondrej
authors.initials: O
authors.lastname: Cinek
authors.forename: Oluf
authors.initials: O
authors.lastname: Pedersen
authors.forename: Philippe
authors.initials: P
authors.lastname: Froguel
authors.forename: Torben
authors.initials: T
authors.lastname: Hansen
authors.forename: Jan
authors.initials: J
authors.lastname: Lebl
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D005799:Genes, Dominant; D006801:Humans; D006943:Hyperglycemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D011955:Receptors, Drug / Q000235:genetics*; D064233:Sulfonylurea Receptors; D055815:Young Adult
chemical_list: D018528:ATP-Binding Cassette Transporters; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors