Comment on: Edghill et al. (2008) Insulin Mutation Screening in 1,044 Patients With Diabetes: Mutations in the INS Gene Are a Common Cause of Neonatal Diabetes but a Rare Cause of Diabetes Diagnosed in Childhood or Adulthood: Diabetes 57:1034–1042, 2008
- From Clinical Sciences, Clinical Research Center, Lund University, University Hospital Malmö Allmänna Sjukhus, Malmoe, Sweden
- Corresponding author: Åke Lernmark, University of Washington, Department of Medicine, P.O. Box 357710, Seattle, WA 98195. E-mail: ake{at}u.washington.edu
In the Diabetes article by Edgehill et al. (1), the authors confirm and expand the recent demonstration that proinsulin gene (INS) mutations may cause permanent neonatal diabetes (2). The sequence analysis (1) is resolving a 30-year-old mystery in the etiology of permanent neonatal diabetes in a sibship that we published in Diabetes 20 years ago (3). The older brother was born in 1975 with diabetes recognized at 3 days of age, and in 1978 his brother was born with diabetes, which was diagnosed on the first day of life. In an attempt to understand the etiology of neonatal diabetes, we reported the …
