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Case Reports in Genetics
Volume 2011, Article ID 768610, 3 pages
http://dx.doi.org/10.1155/2011/768610
Case Report

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency

1Department of Pediatric, Aarhus University Hospital, Skejby, 8200 Aarhus C, Denmark
2Department of Clinical Genetic, Aarhus University Hospital, Nørrebrogade, 8200 Aarhus C, Denmark
3Hagedorn Research Institute, 2820 Gentofte, Denmark
4Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health Sciences, University of Copenhagen, 1350 Copenhagen K, Denmark
5University of Aarhus, 8200 Aarhus C, Denmark
6Steno Diabetes Center, 2820 Gentofte, Denmark
7Faculty of Health Sciences, University of Southern Denmark, 5000 Odense C, Denmark

Received 13 July 2011; Accepted 18 August 2011

Academic Editors: A. Baumer, C.-W. Cheng, and C. Yapijakis

Copyright © 2011 N. H. Birkebæk et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. A. Hattersley, J. Bruining, J. Shield, P. Njolstad, and K. C. Donaghue, “The diagnosis and management of monogenic diabetes in children and adolescents,” Pediatric Diabetes, vol. 10, supplement 12, pp. 33–42, 2009. View at Publisher · View at Google Scholar · View at Scopus
  2. I. Garin, I. Rica, I. Estalella et al., “Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients,” Clinical Endocrinology, vol. 68, no. 6, pp. 873–878, 2008. View at Publisher · View at Google Scholar · View at Scopus
  3. S. Pruhova, P. Dusatkova, Z. Sumnik et al., “Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations,” Pediatric Diabetes, vol. 11, no. 8, pp. 529–535, 2010. View at Publisher · View at Google Scholar · View at Scopus
  4. S. Ellard, K. Thomas, E. L. Edghill et al., “Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young,” Diabetologia, vol. 50, no. 11, pp. 2313–2317, 2007. View at Publisher · View at Google Scholar · View at Scopus
  5. T. Schwarzbraun, C. Windpassinger, L. Ofner et al., “Genomic analysis offivechromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS),” European Journal of Medical Genetics, vol. 49, no. 4, pp. 338–345, 2006. View at Publisher · View at Google Scholar · View at Scopus
  6. S. Naik, E. Riordan-Eva, N. S. Thomas et al., “Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome,” European Journal of Medical Genetics, vol. 54, pp. 89–93, 2010. View at Publisher · View at Google Scholar · View at Scopus
  7. G. Velho, A. T. Hattersley, and P. Froguel, “Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity,” Diabetologia, vol. 43, no. 8, pp. 1060–1063, 2000. View at Publisher · View at Google Scholar · View at Scopus