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Open Access 01-12-2014 | Case report

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

Authors: Valentina Gatta, Chiara Palka, Valentina Chiavaroli, Sara Franchi, Giovanni Cannataro, Massimo Savastano, Antonio Raffaele Cotroneo, Francesco Chiarelli, Angelika Mohn, Liborio Stuppia

Published in: BMC Medical Genetics | Issue 1/2014

Abstract

Background

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).

Conclusions

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.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/15/87/prepub

Title: Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region
Authors: Valentina Gatta
Chiara Palka
Valentina Chiavaroli
Sara Franchi
Giovanni Cannataro
Massimo Savastano
Antonio Raffaele Cotroneo
Francesco Chiarelli
Angelika Mohn
Liborio Stuppia
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2014
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-15-87

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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