Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region
| Autor: | Valentina Chiavaroli, Chiara Palka, Massimo Savastano, Antonio Raffaele Cotroneo, Angelika Mohn, Liborio Stuppia, Valentina Gatta, Sara Franchi, Giovanni Cannataro, Francesco Chiarelli |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
medicine.medical_specialty Madelung deformity Case Report Biology Osteochondrodysplasias Short stature Short Stature Homeobox Protein Genetics medicine Coding region Humans Genetics(clinical) Receptor PAR-1 Multiplex ligation-dependent probe amplification Enhancer Child Genetics (clinical) Growth Disorders Sequence Deletion Homeodomain Proteins Point mutation Homozygote Cytogenetics Middle Aged Molecular biology Phenotype Human genetics Pedigree MLPA Enhancer Elements Genetic Child Preschool Female medicine.symptom SHOX |
| Zdroj: | BMC Medical Genetics |
| ISSN: | 1471-2350 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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