HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents
High prevalence in autoantibody-negative type 1 diabetes with kidney defects
- Klemens Raile, MD1,
- Eva Klopocki, PHD2,
- Theda Wessel, MD1,
- Dorothee Deiss, MD1,
- Denise Horn, MD2,
- Dominik Müller, MD3,
- Reinhard Ullmann, PHD4 and
- Annette Grüters, MD1
- 1Institute for Experimental Pediatric Endocrinology and Diabetes, Charité Campus Virchow, Berlin, Germany
- 2Institute for Medical Genetics, Charité Campus Virchow, Berlin, Germany
- 3Department of Pediatric Nephrology, Charité Campus Virchow, Berlin, Germany
- 4Max Planck Institute for Molecular Genetics, Berlin, Germany
- Corresponding author: Klemens Raile, klemens.raile{at}charite.de
Mature-onset diabetes of the young 5 (MODY5) is characterized by a wide clinical spectrum, including diabetes and kidney disease (1–3). Associated gene defects are either mutations within HNF1B or a 1.4–1.5 Mb monoallelic deletion of chromosome 17q12 including HNF1B (4,5). Up to now, information on prevalence of MODY5 in children and adolescents with diabetes has been very limited (2). We now report prevalence of MODY5 and associated anomalies of HNF1B in a large cohort of children and adolescents with diabetes being followed at our diabetes center.
Analysis of the HNF1B gene was performed by DNA sequencing of all exons (including flanking introns), and samples with normal sequence variants were subsequently analyzed for deletions or duplications using …
