Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation

Springer Science and Business Media LLC - Tập 48 - Trang 2439-2441 - 2005
C. Colombo1, M. Delvecchio2, C. Zecchino2, M. F. Faienza2, L. Cavallo2, F. Barbetti1,3,4
1Laboratory of Molecular Endocrinology and Metabolism, Bambino Gesù Children’s Hospital, Scientific Institute (IRCCS), Rome, Italy
2Department of Biomedicine of Developing Age, Paediatric Endocrinology and Diabetes Unit, University of Bari, Bari, Italy
3Department of Laboratory Medicine, Policlinico Tor Vergata University Hospital, Rome, Italy
4Laboratory of Molecular Endocrinology and Metabolism, Biomedical Scientific Park of Rome S Raffaele, Rome, Italy

Tài liệu tham khảo

Polak M, Shield J (2004) Neonatal and very-early-onset diabetes mellitus. Semin Neonatol 9:59–65 Gloyn AL, Pearson ER, Antcliff JF et al (2004) Activating mutations in the ATP-sensitive potassium channel subunit Kir6.2 gene are associated with permanent neonatal diabetes. N Engl J Med 350:1838–1849 Gloyn AL, Reimann F, Girard C et al (2005) Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet 14:925–934 Massa O, Iafusco D, D’Amato E et al (2005) KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat 25:22–27 Sagen J, Raeder H, Hathout E et al (2004) Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2. Patient characteristics and initial response to sulfonylurea therapy. Diabetes 53:2713–2718 Vaxillaire M, Populaire C, Busiah K et al (2004) Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes 53:2719–2722 Zung A, Glaser B, Nimri R, Zadik Z (2004) Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. J Clin Endocrinol Metab 89:5504–5507 Klupa T, Edghill EL, Nazim J et al (2005) The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation. Diabetologia 48:1029–1031 Reimann F, Gribble FM (2002) Glucose-sensing in glucagon-like peptide-1-secreting cells. Diabetes 51:2757–2763