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Open Access Case report

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region

Valentina Gatta12*, Chiara Palka23, Valentina Chiavaroli23, Sara Franchi2, Giovanni Cannataro4, Massimo Savastano4, Antonio Raffaele Cotroneo4, Francesco Chiarelli23, Angelika Mohn23 and Liborio Stuppia12

  • * Corresponding author: Valentina Gatta

  • † Equal contributors

Author Affiliations

1 Department of Psychological, Humanities and Territory Sciences, School of Medicine and Health Sciences, “G. d’Annunzio” University of Chieti, via dei Vestini 31, 66013 Chieti, Italy

2 Center of Excellence on Aging, “G. d’Annunzio” University Foundation, via dei Vestini 31, 66013 Chieti, Italy

3 Department of Paediatrics, “G. d’Annunzio” University of Chieti, via dei Vestini 5, 66013 Chieti, Italy

4 Department of Neuroscience and Imaging, Section of Diagnostic Imaging and Therapy, Radiology Division, “G. d’Annunzio” University of Chieti, Chieti, Italy

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BMC Medical Genetics 2014, 15:87  doi:10.1186/1471-2350-15-87

Published: 23 July 2014



SHOX alterations have been reported in 67% of patients affected by Léri-Weill dyschondrosteosis (LWD), with a larger prevalence of gene deletions than point mutations. It has been recently demonstrated that these deletions can involve the SHOX enhancer region, rather that the coding region, with variable phenotype of the affected patients.

Here, we report a SHOX gene analysis carried out by MLPA in 14 LWD patients from 4 families with variable phenotype.

Case presentation

All patients presented a SHOX enhancer deletion. In particular, a patient with a severe bilateral Madelung deformity without short stature showed a homozygous alteration identical to the recently described 47.5 kb PAR1 deletion. Moreover, we identified, for the first time, in three related patients with a severe bilateral Madelung deformity, a smaller deletion than the 47.5 kb PAR1 deletion encompassing the same enhancer region (ECR1/CNE7).


Data reported in this study provide new information about the spectrum of phenotypic alterations showed by LWD patients with different deletions of the SHOX enhancer region.

Madelung deformity; MLPA; SHOX; Short stature