Journal Article

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

Medina-Escobedo, Carolina-Elizabeth, Zenteno, Juan, Cruz-Robles, David, Lara-Riegos, Julio-Cesar, Campos-Garcia, Felix-Julian, Castillo-Espinola, Addy-Manuela, Rubio-Zapata, Hector, Velazquez-Ibarra, Ana-Isabel

2022

Overview

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.

• Publisher: MDPI AG
• Subject: 22q11.2 syndrome / Cardiology / Cardiovascular disease / Congenital diseases / Defects / Genetic testing / Heart / Hybridization / newborn screening congenital heart disease / Patients / Pediatrics / Sample size / TBX1 / Transcription factors / Ultrasonic imaging