RAB23 mutations and insights into craniosynostosis

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Growth of the skull occurs at the cranial sutures, which are seams of tissue that separate the skull bones. Early closure of the seams is termed craniosynostosis and may cause a variety of problems – for example affecting vision, breathing, intelligence and psychological development. Although we know that craniosynostosis is sometimes caused by a misprint in a genetic instruction, many of these misprints remain unknown. Recently we identified a new gene, termed RAB23, that is altered in craniosynostosis. This was surprising because RAB23 belongs to a set of genetic instructions that were not previously thought to be involved in this condition. We hope to find out whether changes in related instructions also cause craniosynostosis or other malformations. We will use various methods in this research, including scanning genes in humans and mice for misprints, looking at how protein components stick to each other, and altering the instructions in bones isolated from mouse skulls.By understanding more about how the skull normally develops and how craniosynostosis arises, we aim to develop new diagnostic tests, and hence provide patients and families with better information on the causes of these conditions and the chances that they could occur again in future children.