RAB23 mutations and insights into craniosynostosis

颅骨的生长发生在颅缝，颅缝是分隔颅骨的组织接缝。早期缝合被称为颅缝融合症，可能会导致各种问题--例如影响视力、呼吸、智力和心理发育。虽然我们知道颅突融合有时是由基因指令中的印刷错误引起的，但这些印刷错误中的许多仍然未知。最近，我们发现了一个新的基因，称为RAB23，它在颅缝融合症中发生了改变。这是令人惊讶的，因为RAB23属于一组以前被认为与这种情况无关的遗传指令。我们希望找出相关说明的变化是否也会导致颅缝融合或其他畸形。在这项研究中，我们将使用各种方法，包括扫描人类和老鼠的基因以寻找印迹错误，观察蛋白质成分如何相互粘连，以及改变从老鼠头骨分离出来的骨骼中的指令。通过更多地了解头骨的正常发育和颅缝融合是如何发生的，我们的目标是开发新的诊断测试，从而为患者和家人提供更好的信息，了解这些疾病的原因以及未来儿童再次发生这些疾病的可能性。

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.