The SHOX (Short stature Homeobox-containing gene) is located in the pseudoautosomal region (PAR1) of chromosomes X and Y, in bands Xp22.33 and Yp11.321.
The gene encodes a transcription factor of 292 and 225 amino acids (SHOXa and SHOXb respectively), whose translated proteins differ in the C-terminal regions. SHOX is a cell-specific homeodomain protein involved in cell cycle and growth regulation and activates transcription in osteogenic cells2. SHOX haploinsufficiency is involved in the aetiology of idiopathic short stature and the short stature observed in Turner syndrome3. Homozygous loss of the SHOX gene has been correlated with Langer type mesomelic dysplasia. Subsequently, heterozygous SHOX mutations were also shown to cause Leri-Weill dyschondrosteosis4.
The incidence of SHOX deficiency is between 1 in 2000 and 1 in 5000 in the general population and between 1 in 40 and 1 in 150 in short people5,6.
1. Rao E et al., Nat Genet 1997;16:54-63
2. Rao E et al., Hum Mol Genet 2001;10:3083-91
3. Clement-Jones M et al., Hum Mol Genet. 2000 Mar 22;9(5):695-702
4. Robertson S et al., J Med Genet. 2000 Dec;37(12):959-64
5. Leka SK et al., Hormones 2006;5:107-18
6. Jorge AL et al., Clin Endocri 2007;66:130-5
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