ArticleJournal of human genetics2007
Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.
Article in Journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 34 citations in OpenAlex.
- Systematic or targeted molecular screening of SHOX gene variations in children with idiopathic short stature?Journal of the Endocrine Society · 2026Article
- Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.European journal of human genetics : EJHG · 2021Article
- 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
- SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.Molecular syndromology · 2016Review
- Cytogenetic and Molecular Genetic Characterization of Children with Short Stature.Zdravstveno varstvo · 2015Article
- Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.BMC medical genetics · 2014Article
- MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.BMC medical genetics · 2013Article
- A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells.Journal of pediatric endocrinology & metabolism : JPEM · 2012Article
- Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.International journal of molecular sciences · 2012Review
- Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.Asian journal of andrology · 2010Article
- Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis.Journal of human genetics · 2008Article
- The Human Pseudoautosomal Region (PAR): Origin, Function and Future.Current genomics · 2007Article
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deletions of the SHOX gene (Xp22-Yp11.3) are associated with Leri-Weill dyschondrosteosys (LWD) and idiopathic short stature. It has been estimated that SHOX deletions occur in 1,000-2,000 individuals in the total population, suggesting that this alteration should be investigated in all cases with unexplained short stature. SHOX deletions are currently investigated using fluorescence in situ hybridization (FISH) or molecular analysis of intragenic CA repeats. However, both techniques show some limitations. In the present study, the use of the multiple ligation probe amplification (MLPA) assay for the identification and characterization of SHOX deletions in 15 LWD patients, 3 of which carriers of chromosome abnormalities involving the SHOX gene, is reported. MLPA analysis demonstrated the heterozygous deletion of SHOX in seven patients (46.6%), disclosing the presence of two different proximal breakpoints. In patients with abnormal karyotype, MLPA analysis was able to identify the chromosomal rearrangement, showing, in addition to the SHOX deletions, the gain or loss of other genes mapped on the X and Y chromosomes. Since MLPA analysis can be carried out on a simple buccal swab, avoiding invasive peripheral blood collection, this technique represents a fast, simple and high throughput approach in the screening of SHOX deletions, able to provide more information as compared to FISH and microsatellite analysis.
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