SHOX LPU025 - Detail

The SHOX (Short stature Homeobox-containing gene) is positioned at Xp22 and Yp11.3 in the pseudoautosomal region (PAR1) of both chromosomes ¹. It encodes a transcription factor of 293 and 225 amino acids (SHOXa and SHOXb respectively, whose proteins differ in the C-terminal region). SHOX is a cell-specific homeodomain protein involved in cell cycle and growth regulation and activates transcription in osteogenic cells ². SHOX haploinsufficiency is involved in the etiology of idiopathic short stature and the short stature in Turner syndrome while homozygous loss of the SHOX gene has been correlated with the Langer type mesomelic dysplasia. Subsequently heterozygous SHOX mutations were also shown to cause Leri-Weill dyschondrosteosis. 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 ^{3, 4}.

Reference:/Bibliographie/Literatur/Bibliografia

1. Rao E et al (1997) Nat Genet 16: 54-63
2. Rao E et al. (2001) Hum Mol Genet 10:3083-3091
3. Leka SK et al (2006) Hormones 5:107-118
4. Jorge AL et al (2007) Clin Endocri 66:130-135