Superti-Furga A, Bonafé L, Rimoin D L
Division fo Metabolism and Molecular Pediatrics, University Children's Hospital, Zürich, Switzerland.
Am J Med Genet. 2001 Winter;106(4):282-93.
Genetic disorders of the skeleton (skeletal dysplasias and dysostoses) are a large and disparate group of diseases whose unifying features are malformation, disproportionate growth, and deformation of the skeleton or of individual bones or groups of bones. To cope with the large number of different disorders, the "Nosology and Classification of the Osteochondrodysplasias," based on clinical and radiographic features, has been designed and revised periodically. Biochemical and molecular features have been partially implemented in the Nosology, but the rapid accumulation of knowledge on genes and proteins cannot be easily merged into the clinical-radiographic classification. We present here, as a complement to the existing Nosology, a classification of genetic disorders of the skeleton based on the structure and function of the causative genes and proteins. This molecular-pathogenetic classification should be helpful in recognizing metabolic and signaling pathways relevant to skeletal development, in pointing out candidate genes and possible therapeutic targets, and more generally in bringing the clinic closer to the basic science laboratory and in promoting research in this field.
骨骼的遗传性疾病（骨骼发育异常和骨发育不全）是一大类各不相同的疾病，其共同特征是骨骼、单个骨骼或骨骼组群出现畸形、生长比例失调和变形。为应对大量不同的疾病，基于临床和影像学特征的《骨软骨发育不良的疾病分类学和分类》已被设计并定期修订。生物化学和分子特征已部分纳入该疾病分类学，但关于基因和蛋白质的知识迅速积累，难以轻易融入临床影像学分类中。在此，作为对现有疾病分类学的补充，我们提出一种基于致病基因和蛋白质的结构与功能的骨骼遗传性疾病分类。这种分子发病机制分类有助于识别与骨骼发育相关的代谢和信号通路，指出候选基因和可能的治疗靶点，更广泛地说，有助于拉近临床与基础科学实验室的距离，并促进该领域的研究。
