Implementación de nuevas técnicas diagnósticas en la detección de mutaciones/deleciones del gen SHOX y de la región pseudoautosómica 1 (PAR1) para mejorar el diagnóstico molecular rutinario de pacientes con discondrosteosis de Lèri-Weill y talla baja idiopática

We have recently identified a novel class of PAR1 deletions that do not include SHOX and map downstream of SHOX (Benito-Sanz et al. 2005). These deletions are the most frequent cause of LWD in the Spanish population, accounting for up to 65% of the mutations (Benito-Sanz et al. 2006). The main aim of this project is to evaluate and introduce new genetic techniques to the Spanish healthcare system so as to improve the routine molecular diagnosis of patients with LWD and ISS. We have found high number Spanish short stature patients with a small PAR1 deletion using MLPA (“Multiplex Ligand -dependent Probe Amplification”). In order to analyze the pathogenicity of this deletion we need to determine the frequency of such deletion in 200 Spanish controls with normal height.