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. 2009 May;4(3):241-250.
doi: 10.1586/eem.09.5.

Short stature homeoboxcontaining gene and idiopathic short stature

Lorenzo Iughetti  1 , Petronilla Appio  2 , Lucia Capone  3 , Simona Madeo  4 , Barbara Predieri  5 , Fiorella Balli  6 , Antonino Forabosco  7
Affiliations

Short stature homeoboxcontaining gene and idiopathic short stature

Lorenzo Iughetti et al. Expert Rev Endocrinol Metab. 2009 May.

Abstract

The term idiopathic short stature (ISS) refers to patients who are short due to various unknown reasons. Although it is clear that multiple factors contribute to final height, genetic factors play a crucial role. Mutations of a human homeobox gene, short stature homeobox-containing (SHOX) gene, have been shown to be associated with the short stature phenotype in patients with Turner syndrome, most patients with Leri-Weill dyschondrosteosis and some cases of ISS. The prevalence of SHOX anomalies in subjects previously recognized as having ISS has been estimated at 2.4% in a large series of ISS individuals. This review focuses on the functional properties of the SHOX gene and its linkage to ISS.

Keywords: gene; Langer mesomelic dysplasia; Leri-Weill syndrome; Madelung deformity; Turner syndrome; idiopathic short stature; pseudoautosomal region.

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