title: Identification of Copy Number Variations in Isolated Tetralogy of Fallot.
abstract: Tetralogy of Fallot (ToF) is one of the most common and severe congenital heart defects (CHD). Recently, unbalanced structural genomic variants or copy number variations (CNVs) were proposed to be involved in the etiology of many complex diseases, including CHDs. The aim of this study was to investigate the frequency of CNVs in a region with a high density of CNVs, 22q11.2, and other regions with CHD-related genes in a sample of 52 Mexican mestizo patients with isolated ToF and negative fluorescence in situ hybridization staining for 22q11. CNVs were studied using two multiplex ligation-dependent probe amplification (MLPA) kits, SALSA P250-B1® (DiGeorge gene region) and SALSA MLPA P311-A1® CHD-related gene regions (GATA4, NKX2-5, TBX5, BMP4, and CRELD1). The MLPA assay detected a de novo CNV deletion of the probes located in exons 2 and 7 of the TBX1 gene in one of the 52 patients studied; this result was confirmed by real-time quantitative polymerase chain reaction. This deletion was not present in the patient's parents and 104 chromosomes from healthy control subjects. Our results clearly suggest a possible etiologic association between the TBX1 deletion and the ToF in our patient.
authors.affiliation: Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Mexico, D.F., Mexico.
authors.forename: Adolfo
authors.initials: A
authors.lastname: Aguayo-Gómez
authors.affiliation: Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Mexico, D.F., Mexico. jazminarteaga@hotmail.com.
authors.forename: Jazmín
authors.initials: J
authors.lastname: Arteaga-Vázquez
authors.affiliation: Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Mexico, D.F., Mexico.
authors.forename: Yevgeniya
authors.initials: Y
authors.lastname: Svyryd
authors.affiliation: Department of Pediatric Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico, D.F., Mexico.
authors.forename: Juan
authors.initials: J
authors.lastname: Calderón-Colmenero
authors.affiliation: Congenital Heart Defects Adults Clinic, Instituto Nacional de Cardiología Ignacio Chávez, Mexico, D.F., Mexico.
authors.forename: Carlos
authors.initials: C
authors.lastname: Zamora-González
authors.affiliation: Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico, D.F., Mexico.
authors.forename: Gilberto
authors.initials: G
authors.lastname: Vargas-Alarcón
authors.affiliation: Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Mexico, D.F., Mexico. osvaldo@unam.mx.
authors.forename: Osvaldo M
authors.initials: OM
authors.lastname: Mutchinick
mesh_terms: D000293:Adolescent; D000328:Adult; D056915:DNA Copy Number Variations; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008800:Mexico; D060885:Multiplex Polymerase Chain Reaction; D017384:Sequence Deletion; D020825:T-Box Domain Proteins / Q000235:genetics*; D013771:Tetralogy of Fallot / Q000235:genetics*; D055815:Young Adult
chemical_list: D020825:T-Box Domain Proteins; C108625:TBX1 protein, human
keywords: DNA copy number variations; TBX1 gene; Tetralogy of Fallot