Events1st International Electronic Conference on Genes: Theoretical and Applied Genomics
Event submissions
Published
with-doi10.3390/IECGE-07151 (registering DOI)
This submission belongs to the session S2. Applications of Genomic Technologies of the event 1st International Electronic Conference on Genes: Theoretical and Applied Genomics
Published date
02 Nov, 2020
Citation
Marisol Delea, Lucia Soledad Massara, Lucia Daniela Espeche, María Paz Bidondo, Jaen Oliveri, Paloma Brun, Mónica Fabbro, Micaela Galain, Cecilia Soledad Fernandez, Melisa Ivana Taboas, Carlos David Bruque, Emilio Kolomenski, Pablo Barbero, Viviana Cosentino, Celeste Martinoli, Mariana Vilas, Mónica Rittler, Rodrigo Mendez, Lilian Furforo, Rosa Liascovich, Boris Groisman, Sandra Rozental, Liliana Dain, Agustin Izquierdo, Ariel Berenstein, Genetic analysis algorithm for the study of patients with Multiple Congenital Anomalies and isolated Congenital Heart Disease, in Proceedings of 1st International Electronic Conference on Genes: Theoretical and Applied Genomics, 2 November–30 November 2020, MDPI: Basel, Switzerland, doi: 10.3390/IECGE-07151
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Genetic analysis algorithm for the study of patients with Multiple Congenital Anomalies and isolated Congenital Heart Disease

Marisol Delea 1
Lucia Soledad Massara 2
Lucia Daniela Espeche 3
María Paz Bidondo 3,4
Jaen Oliveri 5
Paloma Brun 6
Mónica Fabbro 7
Micaela Galain 7
Cecilia Soledad Fernandez 7
Melisa Ivana Taboas 8
image
Carlos David Bruque 3
Emilio Kolomenski 9
Agustin Izquierdo 10
Ariel Berenstein 11
Pablo Barbero 3
Viviana Cosentino 12
Celeste Martinoli 13
Mariana Vilas 14
Mónica Rittler 14
Rodrigo Mendez 3
Lilian Furforo 15
Rosa Liascovich 8
Boris Groisman 3
Sandra Rozental 3
Liliana Dain 3,9
1. Centro Nacional de Genética Medica- ANLIS- C.A.B.A - Argentina, Argentina
2. Hospital de Alta Complejidad en Red El Cruce – SAMIC, Provincia. de Buenos Aires, Argentina
3. Centro Nacional de Genética Medica- ANLIS- C.A.B.A - Argentina
4. 1° Unidad académica de Histología, Embriología, Biología Celular y Genética, Facultad de Medicina UBA.
5. Hospital de Alta Complejidad en Red El Cruce – SAMIC, Provincia de Buenos Aires, Argentina
6. Hospital de Alta Complejidad en Red El Cruce – SAMIC, Pcia. de Buenos Aires, Argentina
7. Novagen, C.A.B.A. Argentina
8. Centro Nacional de Genética Medica- ANLIS-C.A.B.A- Argentina
9. Departamento de Fisiología, Biología Molecular y Celular, Instituto de Biociencias, Biotecnología y Biología Traslacional (iB3), Facultad de Ciencias Exactas y Naturales- UBA, C.A.B.A, Argentina
10. Centro de Investigaciones Endocrinológicas ¨Dr. Cesar Bregada
11. Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas
12. Hospital Interzonal General de Agudos Luisa Cravenna de Gandulfo, Provincia de Buenos Aires, Argentina
13. Hospital Sor Maria Ludovica, La Plata, Provincia. de Buenos Aires Argentina
14. Hospital Materno Infantil Ramón Sardá, C.A.B.A, Argentina
15. Centro Nacional de Genética Medica- ANLIS- C.A.B.A- Argentina
Abstract

Introduction: Congenital anomalies (CA) affects 3-5 % of newborns, representing the second leading cause of infant mortality in Argentina. Newborns presenting multiple congenital anomalies (MCA) have a prevalence of 2,26/1000 births while congenital heart diseases (CHD) are the most frequent CA, with a prevalence of 4,06/1000 births. The goal of this work was to identify the genetic causes in patients with MCA and isolated CHD (iCHD) from Argentina.

Material and Methods: We recruited 368 patients (174 MCA and 194 iCHD) born between June 2015 and August 2019 from 13 public hospitals participating in the National Network of Congenital Anomalies of Argentina (RENAC). DNA from peripheral blood was obtained from all patients while karyotyping was performed for those patients presenting with MCA. Samples from patients presenting with conotruncal CHD (cCHD) or DiGeorge phenotype (n=137) were analyzed by MLPA. Ninety-two MCA samples were selected for array-CGH analysis and 18 for targeted or exome next generation sequencing (NGS).

Results: A total of 276 patients were studied by at least one technique. Cytogenetic abnormalities were present in 16 MCA patients, while 16 had clinically relevant imbalances detected by array-CGH. Among cCHD patients, 26 presented 22q11 deletions or duplications and one a TBX1 gene deletion. After NGS analysis, 12 patients presented clinically relevant nucleotide variants, 5 of them novels in KAT6B, SHH, MYH11, MYH7 and EP300 genes.

Conclusions: Using this algorithm that combines a technical and clinical strategy, 28% of the patients analyzed were diagnosed.

Keywords
Multiple congenital anomalies
congenital heart disease
chromosomal abnormalities
array-CGH
next generation sequencing
Manuscript
sciforum-034664-Final version_Layout.pdf
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