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Article

Screening Method for 22q11 Deletion Syndrome Involving the Use of TaqMan qPCR for TBX1 in Patients with Conotruncal Congenital Heart Disease

1
Research Department, Instituto Mexicano del Seguro Social “Ignacio García Tellez”, Merida City 97155, Mexico
2
Pediatric Cardiology Department, Instituto Mexicano del Seguro Social “Ignacio García Tellez”, Merida City 97155, Mexico
3
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City 06800, Mexico
4
Department of Biochemistry, Faculty of Medicine, Universidad Nacional Autónoma de México, Mexico City 04360, Mexico
5
Faculty of Chemistry, Universidad Autónoma de Yucatán, Merida City 97069, Mexico
6
Faculty of Medicine, Universidad Autónoma de Yucatán, Merida City 97000, Mexico
7
Genomic Laboratory, Molecular Biology Department, National Cardiology Institute Ignacio Chavez, Mexico City 14080, Mexico
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: Giuseppe Limongelli
Cardiogenetics 2022, 12(3), 253-260; https://doi.org/10.3390/cardiogenetics12030024
Received: 6 May 2022 / Revised: 29 July 2022 / Accepted: 17 August 2022 / Published: 22 August 2022
(This article belongs to the Section Molecular Genetics)
22q11.2 deletion syndrome is a phenotypic spectrum that encompasses DiGeorge syndrome (OMIM: 188400) and velocardiofacial syndrome (OMIM: 192430). It is caused by a 1.5–3.0 Mb hemizygous deletion of locus 22q11.2, which leads to characteristic facies, conotruncal cardiovascular malformations, velopharyngeal insufficiency, T-lymphocyte dysfunction due to thymic aplasia, and parathyroid hypoplasia, and, less frequently, neurological manifestations such as delayed psychomotor development or schizophrenia. This study aimed to describe a screening method for the diagnosis of 22q11.2 deletion syndrome in patients with Conotruncal Congenital Heart Disease (CCHD), using qPCR to detect the copy number of the TBX1 gene in a single DNA sample. A total of 23 patients were included; 21 with a biallelic prediction of the TBX1 copy number gene and 2 with a monoallelic prediction who were suspected to be positive and subjected to MLPA confirmation. One patient (4.34%) with truncus arteriosus CCHD was confirmed to have 22q11.2 deletion syndrome. We propose this approach as a possible newborn screening method for 22q11.2 deletion syndrome in CCHD patients. View Full-Text
Keywords: newborn screening congenital heart disease; 22q11.2 syndrome; TBX1 newborn screening congenital heart disease; 22q11.2 syndrome; TBX1
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MDPI and ACS Style

Campos-Garcia, F.-J.; Castillo-Espinola, A.-M.; Medina-Escobedo, C.-E.; Zenteno, J.C.; Lara-Riegos, J.-C.; Rubio-Zapata, H.; Cruz-Robles, D.; Velazquez-Ibarra, A.-I. Screening Method for 22q11 Deletion Syndrome Involving the Use of TaqMan qPCR for TBX1 in Patients with Conotruncal Congenital Heart Disease. Cardiogenetics 2022, 12, 253-260. https://doi.org/10.3390/cardiogenetics12030024

AMA Style

Campos-Garcia F-J, Castillo-Espinola A-M, Medina-Escobedo C-E, Zenteno JC, Lara-Riegos J-C, Rubio-Zapata H, Cruz-Robles D, Velazquez-Ibarra A-I. Screening Method for 22q11 Deletion Syndrome Involving the Use of TaqMan qPCR for TBX1 in Patients with Conotruncal Congenital Heart Disease. Cardiogenetics. 2022; 12(3):253-260. https://doi.org/10.3390/cardiogenetics12030024

Chicago/Turabian Style

Campos-Garcia, Felix-Julian, Addy-Manuela Castillo-Espinola, Carolina-Elizabeth Medina-Escobedo, Juan C. Zenteno, Julio-Cesar Lara-Riegos, Hector Rubio-Zapata, David Cruz-Robles, and Ana-Isabel Velazquez-Ibarra. 2022. "Screening Method for 22q11 Deletion Syndrome Involving the Use of TaqMan qPCR for TBX1 in Patients with Conotruncal Congenital Heart Disease" Cardiogenetics 12, no. 3: 253-260. https://doi.org/10.3390/cardiogenetics12030024

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