Detection of SHOX gene deletions in Egyptian children with idiopathic short stature using FISH

Abstract

The short stature homeobox-containing (SHOX) gene, mapped on the pseudoautosomal region of the X and Y chromosomes, strongly affects human height. Therefore, SHOX haploinsufficiency has been reported to cause idiopathic short stature (ISS) and the short stature seen in patients with Turner's syndrome, Leri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. SHOX deletions are responsible for approximately 80% of isolated haploinsufficiency. Aiming to evaluate the prevalence of SHOX gene deletions in the Egyptian patients with unexplained short stature, the present study used FISH analysis to investigate SHOX deletions in 25 patients with ISS. Despite the tiny sample size and the limitations of the used analysis technique, our findings emphasize the importance of including SHOX mutation analysis in the genetic workup of ISS cases. Furthermore, this study could not confirm a correlation of SHOX deletions with any specific clinical feature or an anthropometric measurement.