SHOX gene mutation
Last reviewed 01/2018
The short stature homeobox gene (SHOX) is present on the short arm of the X chromosome in band Xp22.3. It is mutated in sporadic and familial cases of Leri-Weill Syndrome. Sporadic mutations are also associated with Madelung's Deformity and Langer mesomelic dysplasia. It is inherited in a pseudoautosomal manner despite being on the X chromosome. The presence of the gene can be confirmed by fluorescent in situ hybridisation.