PDF(Pubmed)
Abstract：
The hedgehog (Hh) family consists of numerous signaling mediators that play important roles at various stages of development. Thus, the Hh pathway is essential for bone tissue development and tumorigenesis. Gorlin syndrome is a skeletal and tumorigenic disorder caused by gain-of-function mutations in Hh signaling. In this review, we first present the phenotype of Gorlin syndrome and the relationship between genotype and phenotype in bone and craniofacial tissues, including the causative gene as well as other Hh-related genes. Next, the importance of new diagnostic methods using next-generation sequencing and multiple gene panels will be discussed. We summarize Hh-related genetic disorders, including cilia disease, and the genetics of Hh-related bone diseases.
摘要：
刺猬（Hh）家族由许多在不同发育阶段发挥重要作用的信号介体组成。因此，Hh通路对于骨组织发育和肿瘤发生至关重要。Gorlin综合征是由Hh信号传导中的功能获得突变引起的骨骼和肿瘤性疾病。在这次审查中,我们首先介绍了Gorlin综合征的表型以及骨和颅面组织中基因型和表型之间的关系,包括致病基因以及其他Hh相关基因。接下来,我们将讨论使用下一代测序和多基因面板的新诊断方法的重要性.我们总结了与Hh相关的遗传疾病，包括纤毛病,以及与Hh相关的骨骼疾病的遗传学。
