Unexpected phenotype in a boy with trisomy of the SHOX gene
Iughetti, Lorenzo; Capone, Lucia; Bertorelli, Roberto; Predieri, Barbara; Bruzzi, Patrizia; Forabosco, Antonino; mohamed, elkholy; Elsedfy, Heba;
Abstract
The assessment that heterozygous SHOX mutations leading to SHOX haploinsufficiency play a role in patients with idiopathic short stature (ISS) is already documented in the literature as well as the suggestion that additional copies of SHOX are strongly implicated in a condition of tall stature. However, we report the first case of short stature in a male associated with the presence of three copies of the SHOX gene. Through chromosomal analysis, using Multiplex Ligation-dependent Probe Amplification method of SHOX salsa P018B kit and microsatellite analysis, we identify a new interstitial isolated duplication of the SHOX gene and its enhancer caused by a larger duplication of the PAR1 region in a boy with ISS. Consequently, we propose the hypothesis that this chromosome re-arrangement disrupts the regular interaction between the enhancer and promoter, resulting in a transcription block, thus producing a lack of gene activation, causing the clinical feature of short stature.
Other data
Title | Unexpected phenotype in a boy with trisomy of the SHOX gene | Authors | Iughetti, Lorenzo; Capone, Lucia; Bertorelli, Roberto; Predieri, Barbara; Bruzzi, Patrizia; Forabosco, Antonino; mohamed, elkholy ; Elsedfy, Heba | Keywords | Growth | Short stature | Shox gene | Trisomy | Issue Date | 2010 | Journal | Journal of pediatric endocrinology & metabolism : JPEM | ISSN | 0334-018X | DOI | 10.1515/jpem.2010.23.1-2.159 | PubMed ID | 20432819 | Scopus ID | 2-s2.0-77950807881 |
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