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Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature. | LitMetric

AI Article Synopsis

  • SHOX gene, located in the pseudoautosomal region of sex chromosomes, is linked to short stature disorders like Léri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
  • A study identified a novel deletion in the upstream regulatory elements of SHOX in a patient with ISS and her father, which did not affect the SHOX gene itself but included critical enhancers.
  • This finding highlights the importance of examining upstream regulatory regions in genetic assessments for short stature conditions, suggesting they may play a crucial role in SHOX expression and function.

Article Abstract

Short stature homeobox-containing gene, MIM 312865 (SHOX) is located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. Mutations in SHOX or its downstream transcriptional regulatory elements represent the underlying molecular defect in ~60% of Léri-Weill dyschondrosteosis (LWD) and ~5-15% of idiopathic short stature (ISS) patients. Recently, three novel enhancer elements have been identified upstream of SHOX but to date, no PAR1 deletions upstream of SHOX have been observed that only encompass these enhancers in LWD or ISS patients. We set out to search for genetic alterations of the upstream SHOX regulatory elements in 63 LWD and 100 ISS patients with no known alteration in SHOX or the downstream enhancer regions using a specifically designed MLPA assay, which covers the PAR1 upstream of SHOX. An upstream SHOX deletion was identified in an ISS proband and her affected father. The deletion was confirmed and delimited by array-CGH, to extend ~286 kb. The deletion included two of the upstream SHOX enhancers without affecting SHOX. The 13.3-year-old proband had proportionate short stature with normal GH and IGF-I levels. In conclusion, we have identified the first PAR1 deletion encompassing only the upstream SHOX transcription regulatory elements in a family with ISS. The loss of these elements may result in SHOX haploinsufficiency because of decreased SHOX transcription. Therefore, this upstream region should be included in the routine analysis of PAR1 in patients with LWD, LMD and ISS.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234524PMC
http://dx.doi.org/10.1038/ejhg.2011.210DOI Listing

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