Sh3pxd2b基因是新发现的足体受体蛋白基因。它对细胞表面足体形成，细胞外基质改建与重塑，颅颌面器官的发育有重要意义。先天性颅颌面畸形作为口腔颌面外科的常见病，多由基因突变引起。颅颌面畸形患者常伴有颅颌面部多器官疾病的发生，常表现为颞下颌关节、耳、眼、颌面部大血管的异常。我们之前研究发现，Sh3pxd2b基因突变可导致小鼠以圆头、小颌、短鼻为特征的颅颌面畸形。该颅颌面畸形可引起咽鼓管的位置改变与功能障碍，从而导致中耳疾病与听力损害。我们设想该突变对颅颌面部其它器官，尤其是对颞下颌关节也可能造成影响。本课题以Sh3pxd2b基因突变小鼠为动物模型，通过形态学、分子生物学、电生理学、生物力学、计算机生物仿真等手段，研究该基因突变与颅颌面部多器官疾病的关系。同时，对该基因突变引起的小鼠颅颌面多器官疾病的系统化研究，为以后颅颌面部多器官疾病的诊断与治疗提供了新的实验动物模型。

Sh3pxd2b gene is a new podosome adaptor protein,it can significantly affected the process of podosome formation,extracelluar matrix remodleing and craniofacial organs development.Congenital craniofacial dysmorphology is a common disease in Oral and Maxillofacial Surgery,which is mainly caused by gene mutation.The patients with craniofacial dysmorphology usually have diseases affect multiple organs in craniofacial region,which can be shown as temporomandibular joint, ear, eye, maxillofacial vascular abnormalities.In our previous study,we found that Sh3pxd2b gene mutation can lead to mouse craniofacial dysmorphology characterized by domed skull,small jaws and shortened nose.This craniolfacial dysmorphology can cause the positional alteration and dysfunction of eustachian tube,then leading to middle ear diseases and hearing impairment. We hypothesized that this mutation may have influence on the other craniofacial organs,especially the temporomandibular joint.By means of morphology,molecular biology,electrophysiology,biomechanic and computer aided biological simulation ,we plan to study the relationship between Sh3pxd2b gene mutation and the diseases of multiple organs in craniofacial region,using a mouse model with a mutation in Sh3pxd2b gene.At the same time,the systematic research of craniofacial multiple organs diseases caused by this mutation,will provide a new experimental animal model for the diagnosis and treatment of craniofacial multiple organs diseases.