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Isolated Haploinsufficiency of Exon 1 of the SHOX Gene in a Patient with Idiopathic Short Stature

Overview
Journal J Clin Pathol
Specialty Pathology
Date 2006 Jun 29
PMID 16803952
Citations 1
Authors
Y-M Tan
K-Y Loke
Affiliations
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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.

Citing Articles

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.

Benito-Sanz S, Belinchon-Martinez A, Aza-Carmona M, de la Torre C, Huber C, Gonzalez-Casado I J Hum Genet. 2016; 62(2):229-234.

PMID: 27604558 DOI: 10.1038/jhg.2016.113.

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