Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene
-
Hakan Doneray
,
Jayne Houghton
Abstract
Mutations in the KCNJ11 gene are responsible for the majority of permanent neonatal diabetes mellitus (PNDM) cases. Some mutations in this gene, including p.Q52R, are associated with the developmental delay, epilepsy, neonatal diabetes (DEND) syndrome. We describe a patient with PNDM who had no neurological finding although she was determined to have a novel mutation (p.Q52L) in the same residue of the KCNJ11 as in the previously reported cases with DEND syndrome. This case suggests that not all Q52 mutations in the KCNJ11 gene are necessarily related to DEND syndrome.
Acknowledgments
We thank Professor Hattersley for his help with the manuscript and Professor Ellard of the University of Exeter, Medical School, who provided the complimentary molecular genetic testing (see www.diabetesgenes.org). The Wellcome Trust funded the genetic testing.
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©2014 by Walter de Gruyter Berlin Boston
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