title: Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation.
abstract: Homozygous mutations in the glucokinase gene (GCK) result in a complete deficiency of the GCK enzyme, which leads to permanent neonatal diabetes mellitus. Whilst there has been one report of a patient (with a homozygous p.T168A) who was diagnosed with diabetes at the age of 2 months, all other cases were diagnosed with diabetes within the first 2 weeks of life. We now report a second unrelated patient with the same p.T168A GCK mutation who was diagnosed with diabetes at the age of 9 months. We conclude that the specific GCK mutation, as yet unidentified genetic modifiers, and/or environmental factors might have different effects on pancreatic beta-cell functions, causing variability in the age at diagnosis of diabetes.
authors.affiliation: Department of Pediatric Endocrinology, Akdeniz University, 07070 Antalya, Turkey. drerdemdurmaz@yahoo.com
authors.forename: Erdem
authors.initials: E
authors.lastname: Durmaz
authors.forename: Sarah
authors.initials: S
authors.lastname: Flanagan
authors.forename: Afig
authors.initials: A
authors.lastname: Berdeli
authors.forename: Serap
authors.initials: S
authors.lastname: Semiz
authors.forename: Sema
authors.initials: S
authors.lastname: Akcurin
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Iffet
authors.initials: I
authors.lastname: Bircan
mesh_terms: D000367:Age Factors; D002648:Child; D057210:Delayed Diagnosis; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis* / Q000235:genetics*; D005195:Family Relations; D005260:Female; D005941:Glucokinase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007206:Individuality; D007223:Infant; D008297:Male; D020125:Mutation, Missense / Q000502:physiology; D055815:Young Adult
chemical_list: D005941:Glucokinase