Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates

Ibarra Ramírez, Marisol y Lugo Trampe, José de Jesús y Campos Acevedo, Luis Daniel y Zamudio Osuna, Michelle de Jesús y Torres Muñoz, Iris Carmen y Gómez Puente, Viviana y García Castañeda, Gloria y Arredondo Vázquez, Patricia y Rodríguez Sánchez, Irám Pablo y Schaeffer, Satu Elisa y Velasco Sepúlveda, Braulio Hernán y Villarreal Pérez, Jesús Zacarías y Martínez de Villarreal, Laura Elia (2020) Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates. Genetic testing and molecular biomarkers, 24 (6). pp. 1-7. ISSN 1945-0257

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URL o página oficial: DOI: 10.1089/gtmb.2019.0226

Resumen

Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns. Materials and Methods: Gene doses of SHOX, VAMP7, and SRY were determined by quantitative polymerase chain reaction (qPCR) using DNA obtained from dried blood samples from newborns. Relative quantification values were obtained. An aneuploidy profile was established according to cutoff values. Samples with ≥2 gene doses (out of range) were reanalyzed, and those with aneuploidy profiles were confirmed by karyotyping. Sensitivity, specificity, and positive and negative predictive values were obtained. Results: A total of 10,033 samples were collected (4945 females and 5088 males). Of 244 (2.43%) samples with ≥2 gene doses that were retested, 20 cases were confirmed. The overall incidence of SCAs was 1 in 500 live newborns. There were six cases of Turner syndrome (1/824), 3 cases of XXX (1/1648), 7 cases of Klinefelter syndrome (1/726), and 4 cases of of XYY (1/1272). The sensitivity was 0.952 (95.24%), specificity of 0.975 (97.56%), positive predictive value of 0.909 (90.91%), and negative predictive value of 0.987 (98.77%). Conclusions: Gene copy number analyses of VAMP7, SHOX, and SRY genes by qPCR from blood samples spotted onto filter paper is a highly reliable method for the early detection of male and female SCAs.

Tipo de elemento:

Article

Palabras claves no controlados:

Sex chromosome aneuploidies, Early detection, Molecular test, Turner syndrome, Klinefelter syndrome.

Materias:

R Medicina > RC Medicina Interna, Psiquiatría, Neurología
R Medicina > RJ Pediatría

Divisiones:

Medicina

Usuario depositante:

Dra Marisol Ibarra_Ramírez

Creadores:

Creador	Email	ORCID
Ibarra Ramírez, Marisol	mibarrar@uanl.edu.mx	orcid.org/0000-0003-1442-9089
Lugo Trampe, José de Jesús	NO ESPECIFICADO	NO ESPECIFICADO
Campos Acevedo, Luis Daniel	NO ESPECIFICADO	NO ESPECIFICADO
Zamudio Osuna, Michelle de Jesús	NO ESPECIFICADO	NO ESPECIFICADO
Torres Muñoz, Iris Carmen	NO ESPECIFICADO	NO ESPECIFICADO
Gómez Puente, Viviana	NO ESPECIFICADO	NO ESPECIFICADO
García Castañeda, Gloria	NO ESPECIFICADO	NO ESPECIFICADO
Arredondo Vázquez, Patricia	NO ESPECIFICADO	NO ESPECIFICADO
Rodríguez Sánchez, Irám Pablo	NO ESPECIFICADO	NO ESPECIFICADO
Schaeffer, Satu Elisa	elisa.schaeffer@uanl.edu.mx	orcid.org/0000-0001-6300-7208
Velasco Sepúlveda, Braulio Hernán	NO ESPECIFICADO	NO ESPECIFICADO
Villarreal Pérez, Jesús Zacarías	NO ESPECIFICADO	NO ESPECIFICADO
Martínez de Villarreal, Laura Elia	NO ESPECIFICADO	NO ESPECIFICADO