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Short stature homeoboxcontaining gene and idiopathic short stature

descriptionPublicationkeyboard_double_arrow_right Article 01 May 2009 Italy English Publisher:Informa UK LimitedJournal:Expert Review of Endocrinology & Metabolism, volume 4, pages 241-250 (issn: 1744-6651, eissn: 1744-8417,

Authors: IUGHETTI, Lorenzo; APPIO, Petronilla; CAPONE, Lucia; MADEO, Simona Filomena; PREDIERI, Barbara; BALLI, Fiorella; FORABOSCO, Antonino;

doi: 10.1586/eem.09.5

pmid: 30743796

handle: 11380/611811

Short stature homeoboxcontaining gene and idiopathic short stature

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Abstract

The term idiopathic short stature (ISS) refers to patients who are short due to various unknown reasons. Although it is clear that multiple factors contribute to final height, genetic factors play a crucial role. Mutations of a human homeobox gene, short stature homeobox-containing (SHOX) gene, have been shown to be associated with the short stature phenotype in patients with Turner syndrome, most patients with Leri-Weill dyschondrosteosis and some cases of ISS. The prevalence of SHOX anomalies in subjects previously recognized as having ISS has been estimated at 2.4% in a large series of ISS individuals. This review focuses on the functional properties of the SHOX gene and its linkage to ISS.

Country

Italy

Related Organizations

University of Modena and Reggio Emilia
Italy

Keywords

idiopathic short stature; Langer mesomelic dysplasia; Leri-Weill syndrome; Madelung deformity; pseudoautosomal region; SHOX gene; Turner syndrome

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