RAB23 mutations and insights into craniosynostosis

头骨的生长发生在颅缝处，颅缝是将头骨分开的组织缝。过早闭合的接缝被称为颅缝早闭，可能会导致各种问题-例如影响视力，呼吸，智力和心理发育。虽然我们知道颅缝早闭有时是由遗传指令中的错误造成的，但许多错误仍然未知。最近，我们发现了一个新的基因，称为RAB 23，这是改变颅缝早闭。这是令人惊讶的，因为RAB 23属于一组遗传指令，以前没有被认为与这种情况有关。我们希望找出相关指示的变化是否也会导致颅缝早闭或其他畸形。我们将在这项研究中使用各种方法，包括扫描人类和小鼠的基因以寻找错误，观察蛋白质组分如何相互粘附，以及改变从小鼠头骨中分离的骨骼中的指令。通过了解更多关于头骨正常发育和颅缝早闭症如何发生的信息，我们的目标是开发新的诊断测试，从而为患者和家庭提供更好的信息，了解这些疾病的原因以及这些疾病在未来儿童中再次发生的可能性。

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.