The assessment that heterozygous SHOX mutations leading to SHOX haploinsufficiency play a role in subjects with idiopathic short stature (ISS) is already documented in 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 3 copies of SHOX gene.Through a chromosome analysis, using Multiplex Ligation-dependent Probe Amplification method of SHOX salsa P018B kit and microsatellites analysis, we identify a new interstitial isolated duplication of the SHOX gene and its enhancer caused by a larger duplication of PAR1 region in a ISS boy. Consequently, we form the hypothesis that this chromosome re-arrangement disrupts the regular interaction between enhancer and promoter, resulting in a transcription block and determining a lack of gene activation and causes the clinical feature of short stature.
Triplication of SHOX gene in a boy with short stature / Iughetti, Lorenzo; L., Capone; H., Elsedfy; M., Rashad; R., Bertorelli; Predieri, Barbara; Patianna, VIVIANA DORA; M., El Kholy. - In: HORMONE RESEARCH. - ISSN 0301-0163. - STAMPA. - 70 (S1):(2008), pp. 192-193. (Intervento presentato al convegno 47th Annual ESPE Meeting tenutosi a Istanbul nel 20-23 settembre 2008).
Triplication of SHOX gene in a boy with short stature.
IUGHETTI, Lorenzo;PREDIERI, Barbara;PATIANNA, VIVIANA DORA;
2008
Abstract
The assessment that heterozygous SHOX mutations leading to SHOX haploinsufficiency play a role in subjects with idiopathic short stature (ISS) is already documented in 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 3 copies of SHOX gene.Through a chromosome analysis, using Multiplex Ligation-dependent Probe Amplification method of SHOX salsa P018B kit and microsatellites analysis, we identify a new interstitial isolated duplication of the SHOX gene and its enhancer caused by a larger duplication of PAR1 region in a ISS boy. Consequently, we form the hypothesis that this chromosome re-arrangement disrupts the regular interaction between enhancer and promoter, resulting in a transcription block and determining a lack of gene activation and causes the clinical feature of short stature.
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