SHOX: Growth, Leri-Weill and Turner syndromes

Linear growth is a multifactorial trait involving environmental, hormonal a nd genetic factors. The multitude of growth-affecting genetic factors has r ecently been supplemented by the discovery of the homeobox gene SHOX. Altho ugh originally described as causing idiopathic short stature, SHOX mutation s are also responsible for mesomelic growth retardation and Madelung deform ity in Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia. Further more, recent studies implicate SHOX haploinsufficiency in the etiology of a dditional somatic stigmata frequently observed in Turner syndrome. Therefor e, SHOX has a broad functional scope and leads to a variety of different ph enotypes upon mutation.