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001-es BibID:BIBFORM078843
035-os BibID:(PMID)31054299 (WoS)000468162100013 (Scopus)85065402275
Első szerző:Nagy Orsolya (PhD hallgató)
Cím:Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases / Orsolya Nagy, Katalin Szakszon, Brigitta Orsolya Biró, Gábor Mogyorósy, Dóra Nagy, Bálint Nagy, István Balogh, Anikó Ujfalusi
Dátum:2019
ISSN:0168-1656
Megjegyzések:Congenital heart diseases (CHDs) are the most common birth defects among life births, which could be presented as isolated or syndromic with other congenital malformations. The etiology of CHD largely unknown, genetic and environmental factors contribute to the disease. Recurrent copy number variants (CNVs) have been reported in the pathogenesis of CHD. The aim of this study was to evaluate the clinical utility of multiplex ligation-dependent probe amplification (MLPA) and microarray analyses on isolated and syndromic CHD cases and to explore the relationship between identified CNVs and CHD. Eighteen prenatal samples, 16 isolated and 33 syndromic patients with mild to severe CHD phenotype were tested. Prenatal and isolated CHD cases did not show pathogenic CNVs. Clinically significant CNVs were detected in 7/33 (21%) syndromic CHD patients: del 22q11.2 (n=2), 8p23.1 duplication (n=2), deletion 5p (n=1), deletion 6q21-q22 (n=1), unbalanced translocation causing partial deletion of 4q34.3 and duplication of 6q25.1 (n=1). These genomic imbalances contain genes that has been associated with human CHD before. The present study demonstrates that using microarray and MLPA analysis increase the detection rate of causal CNVs in individuals with syndromic CHD.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Congenital heart disease
MLPA
Microarray
Copy number variants
Megjelenés:Journal of Biotechnology. - 299 (2019), p. 86-95. -
További szerzők:Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Biró Brigitta Orsolya Mogyorósy Gábor (1960-) (csecsemő- és gyermekgyógyász, gyermekkardiológus) Nagy Dóra Nagy Bálint (1956-) (molekuláris genetikus) Balogh István (1972-) (molekuláris biológus, genetikus) Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos)
Pályázati támogatás:GINOP-2.3.2-15-2016-00039
GINOP
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001-es BibID:BIBFORM099807
035-os BibID:(cikkazonosító)635480
Első szerző:Zodanu, Gloria Kafui Esi
Cím:Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region / Zodanu Gloria Kafui Esi, Oszlánczi Mónika, Havasi Kálmán, Kalapos Anita, Rácz Gergely, Katona Márta, Ujfalusi Anikó, Nagy Orsolya, Széll Márta, Nagy Dóra
Dátum:2021
ISSN:1664-8021
Megjegyzések:Congenital heart defects (CHD) are the most common developmental abnormalities, affecting approximately 0.9% of livebirths. Genetic factors, including copy number variations (CNVs), play an important role in their development. The most common CNVs are found on chromosome 22q11.2. The genomic instability of this region, caused by the eight low copy repeats (LCR A-H), may result in several recurrent and/or rare microdeletions and duplications, including the most common, ?3 Mb large LCR A-D deletion (classical 22q.11.2 deletion syndrome). We aimed to screen 22q11.2 CNVs in a large Hungarian pediatric and adult CHD cohort, regardless of the type of their CHDs. All the enrolled participants were cardiologically diagnosed with non-syndromic CHDs. A combination of multiplex ligation-dependent probe amplification (MLPA), chromosomal microarray analysis and droplet digital PCR methods were used to comprehensively assess the detected 22q11.2 CNVs in 212 CHD-patients. Additionally, capillary sequencing was performed to detect variants in the TBX1 gene, a cardinal gene located in 22q11.2. Pathogenic CNVs were detected in 5.2% (11/212), VUS in 0.9% and benign CNVs in 1.8% of the overall CHD cohort. In patients with tetralogy of Fallot the rate of pathogenic CNVs was 17% (5/30). Fifty-four percent of all CNVs were typical proximal deletions (LCR A-D). However, nested (LCR A-B) and central deletions (LCR C-D), proximal (LCR A-D) and distal duplications (LCR D-E, LCR D-H, LCR E-H, LCR F-H) and rare combinations of deletions and duplications were also identified. Segregation analysis detected familial occurrence in 18% (2/11) of the pathogenic variants. Based on in-depth clinical information, a detailed phenotype-genotype comparison was performed. No pathogenic variant was identified in the TBX1 gene. Our findings confirmed the previously described large phenotypic diversity in the 22q11.2 CNVs. MLPA proved to be a highly efficient genetic screening method for our CHD-cohort. Our results highlight the necessity for large-scale genetic screening of CHD-patients and the importance of early genetic diagnosis in their clinical management.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
22q11.2 deletion syndrome
TBX1 gene
chromosomal microarray analysis
copy number variations
droplet digital PCR
multiplex ligation-dependent probe amplification
syndromic and non-syndromic congenital heart defects
Megjelenés:Frontiers in Genetics. - 12 (2021), p. 1-11. -
További szerzők:Oszlánczi Mónika Havasi Kálmán Kalapos Anita Rácz Gergely Katona Márta Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos) Nagy Orsolya (1990-) (PhD hallgató) Széll Márta Nagy Dóra
Pályázati támogatás:GINOP-2.3.2-15-2016-00039
GINOP
Hungarian Scientific Research Fund (Grant No. 5S441-A202)
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