ArticleMolecular genetics & genomic medicine2014
SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.
Article in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 22 citations in OpenAlex.
- [Discussion on the genetic mechanisms and efficacy of growth hormone therapy in children with idiopathic short stature].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- A Genetic Approach in the Evaluation of Short Stature.The Eurasian journal of medicine · 2022Article
- Short stature andPeerJ · 2020Article
- Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects.Journal of applied genetics · 2017Article
- Screening ofKorean journal of pediatrics · 2017Article
- 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.Journal of human genetics · 2017Review
- Prevalence of SHOX haploinsufficiency among short statured children.Pediatric research · 2017Article
- A Track Record on SHOX: From Basic Research to Complex Models and Therapy.Endocrine reviews · 2016Review
- SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.Molecular syndromology · 2016Review
- Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.Journal of human genetics · 2015Article
- RARE DOSAGE ABNORMALITIES - COPY NUMBER VARIATIONS FLANKING THE SHOX GENE.Acta endocrinologica (Bucharest, Romania : 2005)Article
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
SHOX gene mutations or haploinsufficiency cause a wide range of phenotypes such as Leri Weill dyschondrosteosis (LWD), Turner syndrome, and disproportionate short stature (DSS). However, this gene has also been found to be mutated in cases of idiopathic short stature (ISS) with a 3-15% frequency. In this study, the multiplex ligation-dependent probe amplification (MLPA) technique was employed to determine the frequency of SHOX gene mutations and their conserved noncoding elements (CNE) in Colombian patients with ISS. Patients were referred from different centers around the county. From a sample of 62 patients, 8.1% deletions and insertions in the intragenic regions and in the CNE were found. This result is similar to others published in other countries. Moreover, an isolated case of CNE 9 duplication and a new intron 6b deletion in another patient, associated with ISS, are described. This is one of the first studies of a Latin American population in which deletions/duplications of the SHOX gene and its CNE are examined in patients with ISS.
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