title: MODY2 caused by a novel mutation of GCK gene.
abstract: Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant inherited disease caused by heterozygous inactivating mutations in the glucokinase (GCK) gene and is characterized by mild noninsulin-dependent fasting hyperglycemia. It is treated with diet only, and complications are extremely rare. We present a report of a family with MODY2 caused by a novel NM_000162.3:c.878T>C mutation in exon 8 of the GCK gene. Testing for MODY2 and reporting all novel mutations are important to avoid difficulties in the interpretation of genetic test results and to provide fast and definitive diagnosis for all patients with this disease.
authors.affiliation: Faculty of Medicine, University of Tartu, Tartu, Estonia.
authors.forename: Kerti
authors.initials: K
authors.lastname: Pulst
authors.forename: Triin
authors.initials: T
authors.lastname: Arbo
authors.forename: Tiina
authors.initials: T
authors.lastname: Kahre
authors.forename: Aleksandr
authors.initials: A
authors.lastname: Peet
authors.forename: Vallo
authors.initials: V
authors.lastname: Tillmann
mesh_terms: D000293:Adolescent; D001786:Blood Glucose / Q000032:analysis; D002940:Circadian Rhythm; D004252:DNA Mutational Analysis; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005941:Glucokinase / Q000235:genetics* / Q000502:physiology; D006801:Humans; D008297:Male; D009154:Mutation / Q000502:physiology
chemical_list: D001786:Blood Glucose; D005941:Glucokinase