Leka Sofia K, Kitsiou-Tzeli Sofia, Kalpini-Mavrou Ariadni, Kanavakis Emmanuel
Horemis Research Laboratory, Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children's Hospital, Athens, Greece.
Hormones (Athens). 2006 Apr-Jun;5(2):107-18. doi: 10.14310/horm.2002.11174.
Since its discovery in 1997, knowledge about the SHOX gene ( Short stature HOmeoboX-containing gene) has rapidly advanced. Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome. Furthermore, SHOX has a broad functional scope and leads to a variety of different morphological-skeletal stigmata associated with these syndromes. This article reviews clinical and molecular data associated SHOX gene defects. Functional ongoing studies are expected to improve our understanding of the SHOX gene as comprising part of a genetic process responsible for normal growth and bone development.
自1997年发现SHOX基因（含矮小同源盒基因）以来，有关该基因的知识迅速积累。尽管最初认为它会导致特发性矮小，但SHOX基因突变也与Léri-Weill软骨骨生成障碍、Langer中肢发育不全和特纳综合征中的生长迟缓有关。此外，SHOX具有广泛的功能范围，并导致与这些综合征相关的各种不同形态骨骼特征。本文综述了与SHOX基因缺陷相关的临床和分子数据。正在进行的功能研究有望增进我们对SHOX基因的理解，该基因是正常生长和骨骼发育相关遗传过程的一部分。
