Alman B A
Division of Orthopaedic Surgery and Program in Developmental and Stem Cell Biology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Clin Genet. 2008 Jan;73(1):24-30. doi: 10.1111/j.1399-0004.2007.00933.x. Epub 2007 Dec 7.
Skeletal dysplasias are disorders in which there is derangement in the growth or shape of the skeleton. Long bone grows from cartilage that persists near the ends until skeletal maturity as the growth plate. Developmental biology work has identified the major regulatory proteins in growth plate chondroyte function. There are hundreds of skeletal dysplasias, and the molecular genetic etiology of many was defined in the past decade and a half. Now that the causative genes for these disorders have been identified, they can be broadly classified by the function of the protein that these genes encode for into disorders caused by extracellular structural proteins, proteins that regulate normal growth plate chondrocyte differentiation and patterning, and enzymes that process these proteins. There are clinical similarities within each group, and the phenotype can be predicted based on the role of the mutated protein in normal growth plate function. As such, this framework to classify the skeletal dysplasias has practical clinical implications.
骨骼发育不良是指骨骼生长或形态出现紊乱的病症。长骨由软骨生长而成，在骨骼成熟前，软骨会一直存在于长骨两端附近，即生长板。发育生物学研究已确定了生长板软骨细胞功能中的主要调节蛋白。骨骼发育不良有数百种，在过去十五年中，许多病症的分子遗传病因已被明确。既然这些病症的致病基因已被确定，那么可根据这些基因所编码蛋白质的功能，将它们大致分为由细胞外结构蛋白、调节正常生长板软骨细胞分化和模式形成的蛋白以及加工这些蛋白的酶所导致的病症。每组病症都有临床相似性，并且可以根据突变蛋白在正常生长板功能中的作用来预测其表型。因此，这种对骨骼发育不良进行分类的框架具有实际临床意义。
