ArticleJournal of human genetics2015
Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Pooled it
- Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.Genes · 2026Article
- Phenotype Variations in a Family with Various Rearrangements in the Locus of theInternational journal of molecular sciences · 2026Article
- Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.European journal of human genetics : EJHG · 2025Article
- Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.Molecular genetics & genomic medicine · 2022Article
- Detection of Del/Dup InsideGenes · 2021Article
- Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.European journal of human genetics : EJHG · 2021Article
- Rare andJournal of medical genetics · 2020Article
- A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype.Journal of translational medicine · 2019Article
- Unbalanced X;9 translocation in an infertile male with de novo duplication Xp22.31p22.33.Journal of assisted reproduction and genetics · 2019Article
- Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene.Scientific reports · 2018Article
- Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.Annals of pediatric endocrinology & metabolism · 2017Review
- 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
- Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.Journal of genetics · 2016Article
- A Track Record on SHOX: From Basic Research to Complex Models and Therapy.Endocrine reviews · 2016Review
- Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.Journal of human genetics · 2016Article
- SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.Molecular syndromology · 2016Review
- RARE DOSAGE ABNORMALITIES - COPY NUMBER VARIATIONS FLANKING THE SHOX GENE.Acta endocrinologica (Bucharest, Romania : 2005)Article
- Application of Chromosomal Microarray for Evaluation of Idiopathic Short Stature in Asian Indian Children: A Pilot Study.Indian journal of endocrinology and metabolismArticle
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pseudoautosomal region 1 (PAR1) contains SHOX, in addition to seven highly conserved non-coding DNA elements (CNEs) with cis-regulatory activity. Microdeletions involving SHOX exons 1-6a and/or the CNEs result in idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). Here, we report six rare copy-number variations (CNVs) in PAR1 identified through copy-number analyzes of 245 ISS/LWD patients and 15 unaffected individuals. The six CNVs consisted of three microduplications encompassing SHOX and some of the CNEs, two microduplications in the SHOX 3'-region affecting one or four of the downstream CNEs, and a microdeletion involving SHOX exon 6b and its neighboring CNE. The amplified DNA fragments of two SHOX-containing duplications were detected at chromosomal regions adjacent to the original positions. The breakpoints of a SHOX-containing duplication resided within Alu repeats. A microduplication encompassing four downstream CNEs was identified in an unaffected father-daughter pair, whereas the other five CNVs were detected in ISS patients. These results suggest that microduplications involving SHOX cause ISS by disrupting the cis-regulatory machinery of this gene and that at least some of microduplications in PAR1 arise from Alu-mediated non-allelic homologous recombination. The pathogenicity of other rare PAR1-linked CNVs, such as CNE-containing microduplications and exon 6b-flanking microdeletions, merits further investigation.
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