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Karger Publishers, Hormone Research in Paediatrics, 5(86), p. 309-318, 2016

DOI: 10.1159/000448282

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Genotype-Phenotype Relationship in Patients and Relatives with <b>SHOX</b> Region Anomalies in the French Population

This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

<b><i>Background:</i></b> The aim of our study was to describe a large population with anomalies involving the <i>SHOX</i> region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation. <b><i>Methods:</i></b> We performed a retrospective multicenter study on French subjects with a <i>SHOX</i> region anomaly diagnosed by multiplex ligation-dependent probe amplification or Sanger sequencing. Phenotypes were collected in each of the 7 genetic laboratories practicing this technique for <i>SHOX</i> analysis. <b><i>Results:</i></b> Among 205 index cases and 100 related cases, 91.3% had LWD. For index cases, median age at evaluation was 11.7 (9.0; 15.9) years and mean height standard deviation score was -2.3 ± 1.1. A deletion of either <i>SHOX</i> or PAR1 or both was found in 74% of patients. Duplications and point mutations/indels affected 8 and 18% of the population, respectively. Genotype-phenotype correlation showed that deletions were more frequently associated with Madelung deformity and mesomelic shortening in girls, as well as with presence of radiologic anomalies, than duplications. <b><i>Conclusions:</i></b> Our results highlight genotype-phenotype relationships in the French population with a <i>SHOX</i> defect and provide new information showing that clinical expression is milder in cases of duplication compared to deletions.