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'Gain of function' gene mutations associated with neonatal diabetes are now thought to be responsible for a range of other neurological dysfunctions. These mutations of the KCNJ11 gene are involved in up to 50% of neonatal diabetes, and research published online this week by the European Journal of Human Genetics shows that some of these mutations can cause a syndrome that can include developmental delay, epilepsy and muscle weakness.
In the study, Anna Gloyn and colleagues present a novel mutation, C166F, in the gene KCNJ11. They show that this and two other known KCNJ11 mutations involved in diabetes also lead to different features of the syndrome known as Developmental delay, Epilepsy and Neonatal Diabetes (DEND). The researchers believe that as the gene is expressed in the brain and neurons some mutations can cause neurological features that are separate and distinct from features resulting directly from acute or chronic diabetes. To date only three patients have been identified with a KCNJ11 mutation as well as developmental delay and epilepsy; the patient with the novel C166F mutation in this study, resulting in full DEND, is the fourth, and supports the thesis that this particular clustering of features is due to these mutations. Neonatal diabetes occurs once every 400,000 births and can be either transient or permanent. Little is known about it, particularly on its long-term course. Members of the research team hope to perform genetic screening on patients who were diagnosed with diabetes before six months of age to help determine treatment. Author contact: Dr Anna L Gloyn (Churchill Hospital, Oxford, UK)
Email: anna.gloyn@drl.ox.ac.uk Editorial contact:
Sarah Cheung (Assistant Editor - Academic Journals, Nature Publishing Group, London, UK)
E-mail: s.cheung@nature.com Abstract available online. (C) European Journal of Human Genetics press release.
Message posted by: Trevor M. D'Souza
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