Detection of Turner Syndrome by Quantitative PCR of SHOX and VAMP7 Genes
Abstract
Turner Syndrome (TS) is an unfavorable genetic condition with a prevalence of 1:2500 in newborn girls. Prompt and effective diagnosis is very important to appropriately monitor the comorbidities. The aim of the present study was to propose a feasible and practical molecular diagnostic tool for newborn screening by quantifying the gene dosage of the SHOX, VAMP7, XIST, UBA1, and SRY genes by quantitative polymerase chain reaction (qPCR) in individuals with a diagnosis of complete X monosomy, as well as those with TS variants, and then compare the results to controls without chromosomal abnormalities. According to our results, the most useful markers for these chromosomal variants were the genes found in the pseudoautosomic regions 1 and 2 (PAR1 and PAR2), because differences in gene dosage (relative quantification) between groups were more evident in SHOX and VAMP7 gene expression. Therefore, we conclude that these markers are useful for early detection in aneuploidies involving sex chromosomes.
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Sensitivity and specificity for detection of SRY was 100% with RT-PCR of SHOX, SRY, and VAMP7.
“Sensitivity and specificity for detection of SRY was 100%, with SHOX and VAMP being important in detection of structural anomalies and SRY for karyotypes with Y material.91”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [91]
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Cites
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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Ibarra-Ramírez, M., Lugo-Trampe, J. D. J., Campos-Acevedo, L. D., Zamudio-Osuna, M., Torres-Muñoz, I., Gómez-Puente, V., García-Castañeda, G., Arredondo-Vázquez, P., Rodríguez-Sánchez, I. P., Schaeffer, S. E., et al. (2020) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2019.0226 · Cited by 4 · see citing works
Self-citation
- Authors
- Ibarra-Ramírez, M., Zamudio-Osuna, M. J., Campos-Acevedo, L. D., Gallardo-Blanco, H. L., Cerda-Flores, R. M., Rodríguez-Sánchez, I. P., & Martínez-de-Villarreal, L. E.
- Affiliations
- Universidad Autónoma de Nuevo León, Monterrey
- Universidad Autónoma de Nuevo León (MX)
- Venue
- Genetic Testing and Molecular Biomarkers
- Publisher
- SAGE Publications
- Published
- 2014-12-23
- Volume
- 19
- Issue
- 2
- Pages
- 88-92
- ISSN
- 1945-0257 (ISSN-L)
- 1945-0265
- OpenAlex
- W337210164
- Cited by
- 8
- References
- 20
- Citations by year
- 2026: 2 · 2024: 1 · 2020: 1 · 2019: 2 · 2016: 1 · 2015: 1
- FWCI
- 0.44
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Genetic Testing and Molecular Biomarkers (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Keywords
- Turner syndrome, newborn screening, SHOX gene, monosomy X, pseudoautosomal region, gene dosage, sex chromosome aneuploidy, XIST, UBA1, SRY, molecular diagnosis
- MeSH terms
- Short Stature Homeobox Protein, Female, Genetic Testing, Humans, Infant, Newborn, Karyotyping, Male, Mexico, Monosomy, Turner Syndrome, Neonatal Screening, Homeodomain Proteins, Gene Dosage, Gene Expression Profiling, Genes, sry, Chromosomes, Human, X, Early Diagnosis, Ubiquitin-Activating Enzymes, Genes, X-Linked, R-SNARE Proteins, Real-Time Polymerase Chain Reaction, RNA, Long Noncoding
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