Resumen

DEL REY, Graciela. El gen SHOX y el crecimiento corporal: descripción, estructura y nuevas técnicas de diagnóstico. BAG, J. basic appl. genet. [online]. 2010, vol.21, n.2. ISSN 1852-6233.

Stature is a complex trait related to growth modulating genes. SHOX is a homeobox gene located in the short arm of the pseudoautosomal region 1 (PAR 1) of the sex chromosomes (Xp22.3 and Yp11.3) and its dosage effect on the stature has been frequently evaluated. SHOX gene is most strongly expressed in bone marrow fibroblasts, implying that SHOX plays a positive role in human skeletogenesis and is known to be an important growth determining factor in human beings. Since X-inactivation is not complete for several loci in Xp22.3, SHOX is expressed on the inactive as well as the active X and Y chromosomes. Subtle distal deletions in Xpter or Ypter were subsequently demonstrated in patients with idiopathic short stature or in Turner Syndrome (TS). Genes located on PAR1 are presented in two active copies indicating a dosage effect in cases with aberrations of sex chromosomes. SHOX haploinsufficiency is associated to short stature of Turner like phenotype, skeletal dysplasia Léri-Weill dyschondrosteosis (LWD), and also in idiopathic short stature (ISS). Defects of SHOX gene are considered the common etiology of short stature in these deseases. Cytogenetyc studies are performed to establish chromosomal abnormalities implying alterations of PAR1 region. Fluorescence in situ hybridization (FISH) technique, microsatellite analysis, Southern blotting, and nowadays the Multiplex Ligation Probe amplification (MLPA) are the most common techniques used to identified deletions or microdeletions of SHOX gene. There are a number of benefits which can be realized from early identification of defects in the SHOX gene in patients with short stature.

Palabras clave : SHOX gene; Haploinsufficiency; Short stature.

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