figshare
Browse
1/1
2 files

Supplementary Material for: Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

dataset
posted on 2016-09-27, 12:00 authored by Auger J., Baptiste A., Benabbad I., Thierry G., Costa J.-M., Amouyal M., Kottler M.-L., Leheup B., Touraine R., Schmitt S., Lebrun M., Cormier Daire V., Bonnefont J.-P., de Roux N., Elie C., Rosilio M.

Background: The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation. Methods: We performed a retrospective multicenter study on French subjects with a SHOX 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 SHOX analysis. Results: 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 SHOX 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. Conclusions: Our results highlight genotype-phenotype relationships in the French population with a SHOX defect and provide new information showing that clinical expression is milder in cases of duplication compared to deletions.

History

Usage metrics

    Hormone Research in Paediatrics

    Categories

    Licence

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC