{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T15:20:41Z","timestamp":1777044041993,"version":"3.51.4"},"reference-count":127,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2022,6,29]],"date-time":"2022-06-29T00:00:00Z","timestamp":1656460800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003074","name":"Agencia Nacional de Promoci\u00f3n Cient\u00edfico y T\u00e9cnica (ANPCyT)","doi-asserted-by":"publisher","award":["PID 2012-0060"],"award-info":[{"award-number":["PID 2012-0060"]}],"id":[{"id":"10.13039\/501100003074","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Congenital anomalies (CA) affect 3\u20135% of newborns, representing the second-leading cause of infant mortality in Argentina. Multiple congenital anomalies (MCA) have a prevalence of 2.26\/1000 births in newborns, while congenital heart diseases (CHD) are the most frequent CA with a prevalence of 4.06\/1000 births. The aim of this study was to identify the genetic causes in Argentinian patients with MCA and isolated CHD. We recruited 366 patients (172 with MCA and 194 with isolated CHD) born between June 2015 and August 2019 at public hospitals. DNA from peripheral blood was obtained from all patients, while karyotyping was performed in patients with MCA. Samples from patients presenting conotruncal CHD or DiGeorge phenotype (n = 137) were studied using MLPA. Ninety-three samples were studied by array-CGH and 18 by targeted or exome next-generation sequencing (NGS). A total of 240 patients were successfully studied using at least one technique. Cytogenetic abnormalities were observed in 13 patients, while 18 had clinically relevant imbalances detected by array-CGH. After MLPA, 26 patients presented 22q11 deletions or duplications and one presented a TBX1 gene deletion. Following NGS analysis, 12 patients presented pathogenic or likely pathogenic genetic variants, five of them, found in KAT6B, SHH, MYH11, MYH7 and EP300 genes, are novel. Using an algorithm that combines molecular techniques with clinical and genetic assessment, we determined the genetic contribution in 27.5% of the analyzed patients.<\/jats:p>","DOI":"10.3390\/genes13071172","type":"journal-article","created":{"date-parts":[[2022,6,29]],"date-time":"2022-06-29T20:47:56Z","timestamp":1656535676000},"page":"1172","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7380-9968","authenticated-orcid":false,"given":"Marisol","family":"Delea","sequence":"first","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica \u201cDr. Eduardo Castilla\u201d- ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Avda. Las Heras 2670, Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia S.","family":"Massara","sequence":"additional","affiliation":[{"name":"Hospital de Alta Complejidad en Red El Cruce\u2014SAMIC. Av. Calchaqu\u00ed 5401, Florencio Varela 1888, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia D.","family":"Espeche","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica \u201cDr. Eduardo Castilla\u201d- ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Avda. Las Heras 2670, Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Paz","family":"Bidondo","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica \u201cDr. Eduardo Castilla\u201d- ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Avda. Las Heras 2670, Buenos Aires 1425, Argentina"},{"name":"Unidad Acad\u00e9mica de Histologia, Embriologia, Biologia Celular y Gen\u00e9tica, Facultad de Medicina UBA, Paraguay 2155, Buenos Aires 1121, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo","family":"Barbero","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica \u201cDr. Eduardo Castilla\u201d- ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Avda. Las Heras 2670, Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaen","family":"Oliveri","sequence":"additional","affiliation":[{"name":"Hospital de Alta Complejidad en Red El Cruce\u2014SAMIC. Av. Calchaqu\u00ed 5401, Florencio Varela 1888, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paloma","family":"Brun","sequence":"additional","affiliation":[{"name":"Hospital de Alta Complejidad en Red El Cruce\u2014SAMIC. Av. Calchaqu\u00ed 5401, Florencio Varela 1888, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Fabro","sequence":"additional","affiliation":[{"name":"Novagen, Viamonte 1430, Buenos Aires 1055, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micaela","family":"Galain","sequence":"additional","affiliation":[{"name":"Novagen, Viamonte 1430, Buenos Aires 1055, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia S.","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Novagen, Viamonte 1430, Buenos Aires 1055, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melisa","family":"Taboas","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica \u201cDr. Eduardo Castilla\u201d- ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Avda. Las Heras 2670, Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0726-5418","authenticated-orcid":false,"given":"Carlos D.","family":"Bruque","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica \u201cDr. Eduardo Castilla\u201d- ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Avda. Las Heras 2670, Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1299-3017","authenticated-orcid":false,"given":"Jorge E.","family":"Kolomenski","sequence":"additional","affiliation":[{"name":"Departamento de Fisiolog\u00eda, Biolog\u00eda Molecular y Celular, Instituto de Biociencias, Biotecnolog\u00eda y Biolog\u00eda Traslacional (iB3), Facultad de Ciencias Exactas y Naturales-UBA, Intendente G\u00fciraldes 2160, Buenos Aires 1428, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agust\u00edn","family":"Izquierdo","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Endocrinol\u00f3gicas \u201cDr. C\u00e9sar Bergad\u00e1\u201d. Gallo 1330, Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariel","family":"Berenstein","sequence":"additional","affiliation":[{"name":"Instituto Multidisciplinario de Investigaciones en Patolog\u00edas Pedi\u00e1tricas, Gallo 1330, Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viviana","family":"Cosentino","sequence":"additional","affiliation":[{"name":"Hospital Interzonal General de Agudos Luisa Cravenna de Gandulfo, Balcarce 351, Lomas de Zamora 1832, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celeste","family":"Martinoli","sequence":"additional","affiliation":[{"name":"Hospital Sor Maria Ludovica, Calle 14 1631, La Plata 1904, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana","family":"Vilas","sequence":"additional","affiliation":[{"name":"Hospital Materno Infantil Ram\u00f3n Sard\u00e1, Esteban de Luca 2151, Buenos Aires 1246, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Rittler","sequence":"additional","affiliation":[{"name":"Hospital Materno Infantil Ram\u00f3n Sard\u00e1, Esteban de Luca 2151, Buenos Aires 1246, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6465-452X","authenticated-orcid":false,"given":"Rodrigo","family":"Mendez","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica \u201cDr. Eduardo Castilla\u201d- ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Avda. Las Heras 2670, Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilian","family":"Furforo","sequence":"additional","affiliation":[{"name":"Hospital Materno Infantil Ram\u00f3n Sard\u00e1, Esteban de Luca 2151, Buenos Aires 1246, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Liascovich","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica \u201cDr. Eduardo Castilla\u201d- ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Avda. Las Heras 2670, Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boris","family":"Groisman","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica \u201cDr. Eduardo Castilla\u201d- ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Avda. Las Heras 2670, Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Rozental","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica \u201cDr. Eduardo Castilla\u201d- ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Avda. Las Heras 2670, Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2155-4999","authenticated-orcid":false,"given":"Liliana","family":"Dain","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica \u201cDr. Eduardo Castilla\u201d- ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Avda. Las Heras 2670, Buenos Aires 1425, Argentina"},{"name":"Departamento de Fisiolog\u00eda, Biolog\u00eda Molecular y Celular, Instituto de Biociencias, Biotecnolog\u00eda y Biolog\u00eda Traslacional (iB3), Facultad de Ciencias Exactas y Naturales-UBA, Intendente G\u00fciraldes 2160, Buenos Aires 1428, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"on behalf of the PID ACM-CC Group","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,29]]},"reference":[{"key":"ref_1","unstructured":"Centers for Disease Control and Prevention (CDC) (2008). Update on overall prevalence of major birth defects\u2013Atlanta: Georgia, 1978\u20132005. Morb. Mortal. Wkly. 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