Progress in studies on molecular genetics of spondyloepiphyseal dysplasia / 医学研究生学报

ABSTRACT

Spondyloepiphyseal dysplasia(SED) includes a group of disorders that cause deformation of vertebrae and epiphyses following gene mutations.Its main clinical manifestations are short stature(with a disproportionately short-trunk),chest malformation and early-onset joint degeneration.These disorders are broadly categorized into two subtypes congenita(SEDC) and tarda(SEDT).In the 2006 revision of the International Nosology and Classification of Genetic Skeletal Disorders,372 different conditions were listed,of which 215 were associated with one or more of 140 different genes.SEDC has consistently been shown to correlate with defects in the gene COL2A1 on the long arm of chromosome 12,whose product is needed to form normal type-Ⅱ collagen.The gene responsible for SEDT is SEDL,mapped to the short arm of the X chromosome(Xp22).This paper briefly reviews the progress in the studies of molecular genetics of SEDC,SEDT and other rare forms of SED,which might provide some practical help for genetic and prenatal diagnoses of SED.