SHOX: growth, Léri-Weill and Turner syndromes.
Linear growth is a multifactorial trait involving environmental, hormonal and genetic factors. The multitude of growth-affecting genetic factors has recently been supplemented by the discovery of the homeobox gene SHOX. Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for mesomelic growth retardation and Madelung deformity in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. Furthermore, recent studies implicate SHOX haploinsufficiency in the etiology of additional somatic stigmata frequently observed in Turner syndrome. Therefore, SHOX has a broad functional scope and leads to a variety of different phenotypes upon mutation.
Blaschke
R J
RJ
Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.
Rappold
G A
GA
D000818:Animals; D006130:Growth Disorders / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D000074122:Short Stature Homeobox Protein; D014424:Turner Syndrome / Q000235:genetics*
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein