Academic Journal
A qPCR-based algorithm for the diagnosis of classic and non-classic Turner syndrome.
| Τίτλος: | A qPCR-based algorithm for the diagnosis of classic and non-classic Turner syndrome. |
|---|---|
| Συγγραφείς: | Bose C; Department of Endocrinology, Nil Ratan Sircar Medical College and Hospital, Kolkata, West Bengal, India., Mondal S; Department of Endocrinology, Nil Ratan Sircar Medical College and Hospital, Kolkata, West Bengal, India., Saha C; Department of Biology, University of North Carolina at Chapel Hill, Chapel Hill, United States., Sengupta N; Department of Endocrinology, Nil Ratan Sircar Medical College and Hospital, Kolkata, West Bengal, India., Bhattacharyya NP; Division of Crystallography and Molecular Biology, Saha Institute of Nuclear Physics, Kolkata, West Bengal, India., Mukhopadhyay S; Department of Research, InBOL Healthcare Educational Centre, Kolkata, West Bengal, India.; Department of Endocrinology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India. |
| Πηγή: | The Indian journal of medical research [Indian J Med Res] 2026 May; Vol. 163 (5), pp. 569-576. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Medknow Country of Publication: United States NLM ID: 0374701 Publication Model: Print Cited Medium: Internet ISSN: 0971-5916 (Print) Linking ISSN: 09715916 NLM ISO Abbreviation: Indian J Med Res Subsets: MEDLINE |
| Imprint Name(s): | Publication: <2011- > : Mumbai : Medknow Original Publication: New Delhi : Council Of Medical Research |
| Ιατρικοί όροι (MeSH): | Real-Time Polymerase Chain Reaction*/methods , Turner Syndrome*/diagnosis , Turner Syndrome*/genetics , Detection Algorithms*, Chromosomes, Human, X/genetics ; Short Stature Homeobox Protein/genetics ; Short Stature Homeobox Protein/metabolism ; R-SNARE Proteins/genetics ; R-SNARE Proteins/metabolism ; Arylsulfatases/genetics ; Arylsulfatases/metabolism ; RNA, Long Noncoding/genetics ; RNA, Long Noncoding/metabolism ; Algorithms ; Karyotyping ; Mosaicism ; Humans ; Male ; Female |
| Περίληψη: | Background and objectives Turner syndrome is an X-chromosome aneuploidy which include classic monosomy-X and variants like mosaicism, isochromosome-Xq, etc. It is diagnosed by karyotyping, which is time-staking, laborious and costly. Quantitative real-time PCR (qPCR) offers a faster and cheaper alternative testing strategy, but single- or dual-primer qPCR may miss some variants. This proof-of-concept study was conducted to evaluate multi-primer qPCR in detecting various karyotypes of Turner syndrome. Methods Genomic DNA was extracted from 50 cases with Turner syndrome (45,X=23; 45,X/46, XX=10; isochromosome-Xq=12; 45, X/46, XY=5), 25 control females (46,XX), and 5 males (46,XY). DNA was analysed using fast qPCR with 4 primers targeting Xp-genes (SHOX, ARSE) and Xq-genes (VAMP7, XIST). The ΔΔCT method calculated gene dose relative to 46,XX females, with HBB being the housekeeping gene. Gene cut-offs were ascertained by receiver -operator-curve (ROC) analysis. This was followed by developing an algorithm for detecting classical and non-classical Turner syndrome. Results Using the criteria SHOX <0.752 "OR" ARSE <0.885, all the cases of Turner syndrome were detected with 100% sensitivity and 93.3% specificity. VAMP7 >0.723 detected isochromosome-Xq- Turner syndrome with 87.9% sensitivity, and 72.7% specificity. SHOX < 0.511 differentiated classic Turner syndrome from 45,X/46,XX mosaics with a 70% sensitivity, and 78.3% specificity. Our qPCR-based algorithm showed near-perfect agreement (Cohen's k=0.81) with 100-cell karyotyping, identifying 14 of 15 Turner syndrome cases with low-level mosaicism missed by 30-cell-karyotyping. Interpretation and conclusions A qPCR-based algorithm can be used for the rapid detection of classic and non-classic Turner syndrome, pending further validation studies. However, it cannot detect ring-chromosomes, mosaic-polyploidy and is inadequate to pinpoint the karyotypic subtype of Turner syndrome. |
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| Contributed Indexing: | Keywords: SHOX; VAMP7; Isochromosomes; Monosomy-X; Turner Syndrome; qPCR |
| Substance Nomenclature: | 0 (SHOX protein, human) 0 (Short Stature Homeobox Protein) 0 (VAMP7 protein, human) 0 (R-SNARE Proteins) EC 3.1.6.- (ARSL protein, human) EC 3.1.6.1 (Arylsulfatases) 0 (XIST non-coding RNA) 0 (RNA, Long Noncoding) |
| Entry Date(s): | Date Created: 20260604 Date Completed: 20260605 Latest Revision: 20260813 |
| Update Code: | 20260813 |
| PubMed Central ID: | PMC13235555 |
| DOI: | 10.25259/IJMR_2515_2025 |
| PMID: | 42237825 |
| Βάση Δεδομένων: | MEDLINE |
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