Genotypes and Phenotypes of Children with SHOX Deficiency in France

• DOI: 10.1210/jc.2011-3460
• Publication Date: 2012-04-21T00:25:24Z
• Authors: Myriam Rosilio; Céline Huber-Lequ...; Hélène Sapin; Jean-Claude Carel; Werner F. Blum; Valérie Cormier-D...
• Keywords: Idiopathic short stature

The prevalence of SHOX deficiency in children with short stature (SS) is variable the literature and various genotypes have been identified.The aim our study was to determine frequency distribution a large sample SS France.Children were enrolled 38 French pediatric endocrinology centers either diagnosed Leri-Weill syndrome (LWS), idiopathic (ISS), or disproportionate (DSS).SHOX analysis performed centrally as part Genetics Neuroendocrinology Short Stature International Study observational study. We compared patients (SHOX-D) without (non-SHOX-D).Among 537 tested [58.3% females, mean age 11.0 (4.2) yr], 27.7% had (LWS, 48.9%; ISS, 16.9%; DSS, 18.8%). Mean height [-2.3 (0.9) sd score] similar SHOX-D non-SHOX-D patients. majority LWS deletion encompassing point mutation (69%), whereas 59% those ISS downstream enhancer region. parents carrying higher than other gene anomalies.SHOX deletions mutations well identified almost one third tested. An anomaly this latter region seemed be linked milder phenotype. Although further confirmation needed, we suggest that should systematically analyzed suspected deficiency.