从生长板局部看身材矮小

View on short stature from the perspective of growth plate

长骨两端的生长板是线性生长的靶器官。生长的调控通过生长板来实现,其最终机制是触发生长板软骨细胞基因表达的变化。身材矮小反映了长骨生长障碍,任何影响生长板软骨形成的调控的因素都可致线性生长障碍导致身材矮小。生长板局部调控生长的机制包括细胞外基质、细胞内信号通路、旁分泌通路等。导致身材矮小的基因突变具高度异质性;同时这些基因突变具有多效性,即表型是广谱的,从单纯性孤立性身材矮小,到综合征性身材矮小。随着下代测序等分子生物学的高速发展,导致生长障碍的生长板调控基因将不断被发现,深化我们对身材矮小的认识和诊断。

The growth plate is the target organ of linear growth.Short stature reflects the growth disorders of long bone.The genetic defect that impairs growth plate chondrogenesis may cause linear growth disorders,which leads to short stature.The mechanism of locally regulating growth of growth plate includes extracellular matrix,intracellular signaling pathway,and paracrine signaling pathway.The genes mutation causing short stature is of high heterogeneity and pleiotropy,that is,the phenotype is of broad spectrum,from simple isolated short stature to syndromatic one.Rapid progress in Next Generation Sequencing(NGS)allows identification of more and more genes affecting chondrogenesis at the growth plate leading to growth disorders and short stature,which will improve our knowledge and diagnosis of short stature.