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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Unexpected phenotype in a boy with trisomy of the SHOX gene
Journal of Pediatric Endocrinology and Metabolism, Volume 23, No. 1-2, Year 2010
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Description
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 PARI 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. © Freund Publishing House Ltd..
Authors & Co-Authors
Iughetti, Lorenzo
Italy, Modena
Università Degli Studi Di Modena e Reggio Emilia
Italy, Fano
Cante Di Montevecchio Association
Capone, Lucia
Italy, Modena
Università Degli Studi Di Modena e Reggio Emilia
Egypt, Cairo
Ain Shams University
Elsedfy, Heba Hassan
Italy, Fano
Cante Di Montevecchio Association
Bertorelli, Roberto
Italy, Modena
Università Degli Studi Di Modena e Reggio Emilia
Predieri, Barbara
Italy, Modena
Università Degli Studi Di Modena e Reggio Emilia
Bruzzi, Patrizia
Italy, Modena
Università Degli Studi Di Modena e Reggio Emilia
Forabosco, Antonino
Italy, Modena
Università Degli Studi Di Modena e Reggio Emilia
Kholy, Mohamed El
Egypt, Cairo
Ain Shams University
Statistics
Citations: 20
Authors: 8
Affiliations: 3
Identifiers
Doi:
10.1515/JPEM.2010.23.1-2.159
ISSN:
0334018X
Research Areas
Genetics And Genomics
Participants Gender
Male