CNVs in the 22q11.2 Chromosomal Region Should Be an Early Suspect in Infants with Congenital Cardiac Disease

Pineda, Tatiana; Zarante, Ignacio; Paredes, Ángela Camila; Rozo, Juan Pablo; Reyes, Martha; Moreno-Niño, Olga

doi:10.1177/11795468211016870

Cited by 3 publications

(2 citation statements)

References 42 publications

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“…Genome-wide association studies of pathogenic and/or rare CNVs have highlighted the significant contribution of genetic variations toward CHD susceptibility ( 26 , 27 , 28 , 29 ). In this study, 1,762 CHD patients, who underwent corrective surgeries for cardiac defects, were genetically screened for rare CNVs.…”

Section: Discussionmentioning

confidence: 99%

The implication of chromosomal abnormalities in the surgical outcomes of Chinese pediatric patients with congenital heart disease

Liu

et al. 2023

Front. Cardiovasc. Med.

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BackgroundCopy number variations (CNVs) have been shown to be overrepresented in children with congenital heart disease (CHD). Genetic evaluation of CHD is currently underperformed in China. We sought to determine the occurrence of CNVs in CNV regions with disease-causing potential among a large cohort of Chinese pediatric CHD patients and investigate whether these CNVs could be the important critical modifiers of surgical intervention.MethodsCNVs screenings were performed in 1,762 Chinese children who underwent at least one cardiac surgery. CNV status at over 200 CNV locus with disease-causing potential was analyzed with a high-throughput ligation-dependent probe amplification (HLPA) assay.ResultsWe found 378 out of 1,762 samples (21.45%) to have at least one CNV and 2.38% of them were carrying multiple CNVs. The detection rates of ppCNVs (pathogenic and likely pathogenic CNVs) were 9.19% (162/1,762), significantly higher than that of the healthy Han Chinese individuals from The Database of Genomic Variants archive (9.19% vs. 3.63%; P = 0.0012). CHD cases with ppCNVs had a significantly higher proportion of complex surgeries compared to CHD patients with no ppCNVs (62.35% vs. 37.63%, P < 0.001). Duration of cardiopulmonary bypass and aortic cross clamp procedures were significantly longer in CHD cases with ppCNVs (all P < 0.05), while no group differences were identified for complications of surgery and one-month mortality after surgery. The detection rate of ppCNVs in the atrioventricular septal defect (AVSD) subgroup was significantly higher than that in other subgroups (23.10% vs. 9.70%, P = 0.002).ConclusionsCNV burden is an important contributor to Chinese children with CHD. Our study demonstrated the robustness and diagnostic efficiency of HLPA method in the genetic screening of CNVs in CHD patients.

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Section: Discussionmentioning

confidence: 99%

The implication of chromosomal abnormalities in the surgical outcomes of Chinese pediatric patients with congenital heart disease

Liu

et al. 2023

Front. Cardiovasc. Med.

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“…MLPA: Assays were performed using the SALSA MLPA probe mix P250-B1 DiGeorge kit (MRC-Holland, Amsterdam, The Netherlands) [17]. A total of 40 ng of DNA from each patient and control sample was used, with a purity index greater than 1.8.…”

Section: Methodsmentioning

confidence: 99%

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

et al. 2022

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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.

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La amplificación múltiple de sondas dependiente de ligación para el diagnóstico rápido de aneuploidías. Revisión sistemática

Torres

Álvarez

Martínez

et al. 2023

Salud, Ciencia y Tecnología - Serie de Conferencias

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Propósito de la revisión: En Cuba se dispone actualmente de una alternativa en aquellos casos donde la realización del cariotipo no es posible o resulta no concluyente, en tales casos se descartan las principales aneuploidías empleando la hibridación fluorescente in situ. Su empleo resulta muy costoso e implica una carga intensa de trabajo. Entre los estudios moleculares que han ganado mayor repercusión en la literatura científica mundial como un medio para la determinación del número de copias de un segmento genómico está la amplificación múltiple de sondas dependiente de ligación. Objetivo: Evaluar a través del rastreo de la literatura científica a la amplificación múltiple de sondas dependiente de ligación como una técnica factible para su uso en la determinación de las principales aneuploidías. Método de búsqueda: Se realizaron búsquedas en Pubmed/Medline y Google académico. Se empleó la siguiente estrategia de búsqueda: “(MLPA OR multiplex OR ligation-dependent) AND (aneuploidy OR trisomy) AND amniotic”. Se seleccionaron solo artículos a texto completo; principalmente los que reflejan su empleo en el diagnóstico prenatal empleando líquido amniótico como muestra. Conclusiones: El empleo de la MLPA podría significar la obtención de resultados en menos tiempo, con menores costos por caso y menor carga laboral, entre otras ventajas. Sin embargo, los especialistas consideran que deben realizarse más estudios antes de emplearla como única técnica para la identificación de aneuploidías.

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CNVs in the 22q11.2 Chromosomal Region Should Be an Early Suspect in Infants with Congenital Cardiac Disease

Cited by 3 publications

References 42 publications

The implication of chromosomal abnormalities in the surgical outcomes of Chinese pediatric patients with congenital heart disease

The implication of chromosomal abnormalities in the surgical outcomes of Chinese pediatric patients with congenital heart disease

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

La amplificación múltiple de sondas dependiente de ligación para el diagnóstico rápido de aneuploidías. Revisión sistemática

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