遗传性骨病的分子遗传学研究进展

遗传性骨病是一大组临床和遗传异质性较强的骨软骨发育不良疾病,常见的临床表现包括矮身材、畸形、不成比例生长以及单个或一组骨骼发育不良。目前与软骨和成骨发育相关疾病的分子遗传学机制发展迅速,《国际遗传性骨病分类标准（2006年版）》共纳入372种遗传性骨病,并按其分子遗传、生化以及影像学特点分为37组,已明确其中215种与一个或多个基因突变相关,相关致病基因约140个。本文简要介绍《国际遗传性骨病分类标准（2006年版）》,综述了与骨软骨发育不良相关的基因如成纤维细胞生长因子受体3（FGFR3）、Ⅱ型胶原（COL2A1）等,以及基因突变导致的临床表现,为遗传性骨病的诊断、产前诊断以及骨软骨发育不良的基础研究提供帮助。

Progress on molecular genetics of genetic skeletal disorders

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. While they have been considered to be generalized disorders of endochondral and/or membranous ossification, the extent of their clinical and molecular heterogeneity is still being elucidated. In the 2006 revision of the International Nosology and Classification of Genetic Skeletal Disorders, 372 different conditions were listed in 37 groups defined by such molecular, biochemical, and/or radiographic criteria. Of these conditions, 215 were associated with one or more of 140 different genes. By providing an updated overview of recognized entities with skeletal involvement and of the underlying gene defects, this paper can provide practical diagnostic help, facilitate the recognition of new entities, and foster and direct research in skeletal biology and genetic disorders.