Literature DB >> 16803952

Isolated haploinsufficiency of exon 1 of the SHOX gene in a patient with idiopathic short stature.

Y-M Tan1, K-Y Loke.   

Abstract

This paper reports the case of a 16-year-old woman with idiopathic short stature (ISS) who was detected to be haploinsufficient in only exon 1 of the short stature homeobox-containing (SHOX) gene by RQ-PCR and had two copies of the other six exons intact. The translation of the SHOX protein and of the SHOX promoter may be potentially affected if the deletion of exon 1 is extended further upstream. Further studies may help in determining the significance of partial exonic deletions of the SHOX gene in relation to ISS.

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Year:  2006        PMID： 16803952      PMCID： PMC1860432          DOI： 10.1136/jcp.2005.028894

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN： 0021-9746            Impact factor:   3.411


  10 in total

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  10 in total
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Review 1.  Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.

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  1 in total

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