Identification of the genes for skeletal dysplasia and onstruction of its diagnostic system

我们鉴定了骨骼发育不良的致病基因，并检测了该基因的突变谱。主要结果如下：1)我们对MED进行了全面的分析，并阐明了它的基因-表型相关性。2)我们发现DTD突变导致了介于寰椎成骨II型和遗传性发育不良之间的一种中间表型。3)我们阐明了脊柱Ylo-肋骨发育不良的表型谱。4)我们在Martin病患者中发现了新的突变。5)我们在软骨-头发发育不良中发现了新的RMPM突变。6)我们发现SBDS与脊柱性骨质骨发育不良、sedagafian型有关。7)我们发现SLC35D1会导致Scheck kenbecbeca型发育不良。

We identified the disease gene for skeletal dysplasia, and examined the mutation spectrum of the gene. The main results are as follows.1) We made a comprehensive analysis of MED and clarified its genotype-phenotype association.2) We discovered that DTD mutations cause an intermediate phenotype beiween atelosteogenesis type II and diastrophic dysplasia.3) We clarified a phenotypic spectrum of sponcYlo-costal dysplasia.4) We found novel mutations in patients with Martin disease.5) We found novel RMPM mutations in cartilage-hair hypoplasia.6) We discovered that SBDS is responsible for spondy lo meta physeal dysplasia, sedagafian type.7) We discovered that SLC35D1 causes Schneckenbecken dysplasia.