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.

Unexpected phenotype in a boy with trisomy of the SHOX gene / Iughetti, Lorenzo; Capone, L; Elsedfy, H; Bertorelli, R; Predieri, Barbara; Bruzzi, P; Forabosco, Antonino; El Kholy, M.. - In: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. - ISSN 0334-018X. - STAMPA. - 23:(2010), pp. 159-169.

Unexpected phenotype in a boy with trisomy of the SHOX gene.

IUGHETTI, Lorenzo;PREDIERI, Barbara;FORABOSCO, Antonino;
2010

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.
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Unexpected phenotype in a boy with trisomy of the SHOX gene / Iughetti, Lorenzo; Capone, L; Elsedfy, H; Bertorelli, R; Predieri, Barbara; Bruzzi, P; Forabosco, Antonino; El Kholy, M.. - In: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. - ISSN 0334-018X. - STAMPA. - 23:(2010), pp. 159-169.
Iughetti, Lorenzo; Capone, L; Elsedfy, H; Bertorelli, R; Predieri, Barbara; Bruzzi, P; Forabosco, Antonino; El Kholy, M.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/694882
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