SHOX in short stature syndromes.
Linear growth is a multifactorial trait that is influenced and regulated by a combination of environmental and internal factors. Among the intrinsic determinants of final body height, genetic factors have become more and more prominent, and the list of genes involved in growth-related processes has been extended accordingly. One of the most exciting additions to this list is represented by the discovery of the pseudoautosomal gene SHOX. Originally described as a gene responsible for idiopathic short stature, it has become clear that SHOX mutations can also cause mesomelic short stature and Madelung deformity in Léri-Weill syndrome. In addition, recent studies implicate SHOX haploinsufficiency in a variety of somatic Turner syndrome stigmata.
Blaschke
R J
RJ
Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
Rappold
G A
GA
D001827:Body Height / Q000235:genetics*; D003001:Cloning, Molecular; D006130:Growth Disorders / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000502:physiology*; D010009:Osteochondrodysplasias / Q000235:genetics; D000074122:Short Stature Homeobox Protein; D013577:Syndrome; D014424:Turner Syndrome / Q000235:genetics
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein