SHOX LPU025

The SHOX (Short stature Homeobox-containing) gene is positioned in the pseudoautosomal region (PAR1) of the X and Y-chromosomes. SHOX is a cell-specific protein involved in cell cycle and growth regulation. SHOX haploinsufficiency is involved in the etiology of idiopathic short stature in Turner syndrome while homozygous loss of the SHOX gene has been correlated with short stature and limb deformities. Subsequently heterozygous SHOX mutations were also shown to cause Leri-Weill dyschondrosteosis (LWD) characterised by short stature, limb deformities specifically in the wrist. The incidence of SHOX deficiency is between 1 in 2000 - 1 in 5000 in the general population and 1 in 40 to 1 in 150 in short people.