http://sgc.anlis.gob.ar/handle/123456789/7 CeNaGeM 2026-05-09T08:05:14Z http://sgc.anlis.gob.ar/handle/123456789/2742 Title: Analysis of Prevalence and Mortality Among Neonates and Children With Intestinal Atresia: A Multinational Study, 1974-2015 Authors: Carreño, Angie; Aguilera, Maria Paula; Ibañez, Lina; Sarmiento, Karen; Gili, Juan A; Siffel, Csaba; Nembhard, Wendy N; Bergman, Jorieke E H; Bermejo-Sánchez, Eva; Tagliabue, Giovanna; Dastgiri, Saeed; Feldkamp, Marcia L; Pocius, Stephanie; Gatt, Miriam; Martinez, Laura; Canessa, María Aurora; Groisman, Boris; Källén, Karin; Landau, Danielle; Lelong, Nathalie; Morgan, Margery; Arteaga-Vázquez, Jazmín; Santoroi, Michele; Rissmann, Anke; Sipek, Antonin; Szabova, Elena; Wertelecki, Wladimir; Canfield, Mark A; Mastroiacovo, Pierpaolo; Zarante, Ignacio Abstract: Small intestinal atresia (SIA) consists of a congenital obstruction of the lumen of the duodenum, jejunum, or ileum with varying severity. The aim of the investigation was to analyze the prevalence and mortality of SIA, using data from the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). Description: Fil: Carreño, Angie. Birth Defect Surveillance Program, Faculty of Health Sciences, Pontificia Universidad Javeriana, Cali, Colombia. Fil: Aguilera, Maria Paula. Human Genetics Institute, Faculty of Medicine, Pontificia Universidad Javeriana, Bogotá, Colombia. Fil: Ibañez, Lina. Faculty of Health Sciences, Universidad Libre Sectional Cali, Cali, Colombia. Fil: Sarmiento, Karen. Department of Physiologic Science, Faculty of Medicine, Pontificia Universidad Javeriana, Bogotá, Colombia. Fil: Gili, Juan A. Estudio Colaborativo Latino Americano de Malformaciones Congénitas ECLAMC (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas (CEMIC-CONICET), Buenos Aires, Argentina; Universidad Nacional de Villa María, Córdoba, Argentina. Fil: Siffel, Csaba. College of Allied Health Sciences, Augusta University, Augusta, Georgia, USA. Fil: Nembhard, Wendy N. Arkansas Center for Birth Defects Research and Prevention and Arkansas Reproductive Health Monitoring System, University of Arkansas for Medical Sciences, Department of Epidemiology, Little Rock, Arkansas, USA. Fil: Bergman, Jorieke E H. Department of Genetics, EUROCAT Northern Netherlands, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. Fil: Bermejo-Sánchez, Eva. Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Unidad de Investigación sobre Anomalías Congénitas (UIAC), Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III, Madrid, España. Fil: Tagliabue, Giovanna. Lombardy Congenital Anomalies Registry, Cancer Registry Unit, Fondazione IRCCS, National Cancer Institute, Roma, Italia. Fil: Dastgiri, Saeed. Health Services Management Research Centre, Tabriz University of Medical Sciences, Tabriz, Iran. Fil: Feldkamp, Marcia L. Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA. Fil: Pocius, Stephanie. Utah Birth Defect Network, Office of Children With Special Health Care Needs, Division of Family Health, Utah Department of Health and Human Services, Salt Lake City, Utah, USA. Fil: Gatt, Miriam. Malta Congenital Anomalies Registry, Directorate for Health Information and Research, La Valeta, Malta. Fil: Martinez, Laura. Departamento de Genética, Hospital Universitario. Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Nuevo León, Mexico. Fil: Canessa, María Aurora. Registro Regional Malformacional Congénita Maule Health Service (RRMC-SSM), Maule, Chile. Fil: Groisman, Boris. Red Nacional de Anomalías Congénitas de Argentina (RENAC), Centro Nacional de Genética Médica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) Ministerio de Salud, Buenos Aires, Argentina. Fil: Källén, Karin. National Board of Health and Welfare, Stockholm, Sweden. Fil: Landau, Danielle. Department of Neonatology, Soroka Medical Center, Beer-Sheva, Israel. Fil: Lelong, Nathalie. University of Paris, CRESS Obstetrical, Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France. Fil: Morgan, Margery. CARIS, the Congenital Anomaly Register for Wales, Singleton Hospital, Swansea, Wales, UK. Fil: Arteaga-Vazquez, Jazmin. Department of Genetics, RYVEMCE, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Mexico City, Mexico. Fil: Santoroi, Michele. Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy. Fil: Rissmann, Anke. Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty, Otto-von-Guericke University, Magdeburg, Germany. Fil: Sipek, Antonin. Department of Medical Genetics, Thomayer Hospital, Prague, Czech Republic. Fil: Szabova, Elena. Slovak Teratologic Information Centre (FPH), Slovak Medical University, Bratislava, Slovak Republic. Fil: Wertelecki, Wladimir. Omni-Net for Children International Charitable Fund, Rivne, Ukraine. Fil: Canfield,Mark A. Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA. Fil: Mastroiacovo, Pierpaolo. International Center on Birth Defects, International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy. Fil: Zarante, Ignacio. Human Genetics Institute, Faculty of Medicine, Pontificia Universidad Javeriana, Bogotá, Colombia; San Ignacio University Hospital, Bogotá, Colombia. 2026-04-20T00:00:00Z http://sgc.anlis.gob.ar/handle/123456789/2733 Title: Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease Authors: Delea, Marisol; Massara, Lucía S; Espeche, Lucía; Bidondo, Maria Paz; Barbero, Pablo; Oliveri, Jaen; Brun, Paloma; Fabro, Mónica; Galain, Micaela; Fernandez, Cecilia; Taboas, Melisa; Bruque, Carlos David; Kolomenski, Emilio; Izquiedo, Agustín; Berenstein, Ariel; Cosentino, Viviana R; Martinoli, Celeste; Vilas, Mariana; Rittler, Mónica; Mendez, Rodrigo; Furforo, Lilian; Liascovich, Rosa; Groisman, Boris; Rozental, Sandra; Dain, Liliana Abstract: Congenital anomalies (CA) affect 3–5% 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. 2022-06-22T00:00:00Z http://sgc.anlis.gob.ar/handle/123456789/2731 Title: Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient Authors: Taboas, Melisa; Fernandez, Cecilia; Belli, Susana; Buzzalino, Noemí; Alba, Liliana; Dain, Liliana Abstract: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90%–95% of cases.This autosomal recessive disorder has a broad spectrum of clinical forms, ranging from severe or classical, which includes the salt-wasting and simple virilizing forms, to themild late onset or nonclassical form.Most of the disease-causingmutations described are likely to be the consequence of nonhomologous recombination or gene conversion events between the active CYP21A2 gene and its homologous CYP21A1P pseudogene. Nevertheless, an increasing number of naturally occurring mutations have been found. The change p.H62L is one of the most frequent rare mutations of the CYP21A2 gene. It was suggested that the p.H62L represents a mild mutation that may be responsible for a more severe enzymatic impairment when presented with another mild mutation on the same allele. In this report, a 20-year-old woman carrying an isolated p.H62L mutation in compound heterozygosity with c.283-13A/C>G mutation is described. Although amildly nonclassical phenotype was expected, clinical signs and hormonal profile of the patient are consistent with a more severe simple virilizing form of 21-hydroxylase deficiency.The study of genotype-phenotype correlation in additional patients would help in defining the role of p.H62L in disease manifestation. 2013-07-15T00:00:00Z http://sgc.anlis.gob.ar/handle/123456789/2729 Title: An update on genetic variants of the NKX2-5 Authors: Delea, Marisol; Simonetti, Leandro; Fabbro, Mónica; Espeche, Lucía; Taboas, Melisa; Nadra, Alejandro D.; Bruque, Carlos David; Dain, Liliana Abstract: [ABSTRACT.] NKX2-5 is a homeodomain transcription factor that plays a crucial role in heart development. It is the first gene where a single genetic variant (GV) was found to be associated with congenital heart diseases in humans. In this study, we carried out a comprehensive survey of NKX2-5 GVs to build a unified, curated, and updated compilation of all available GVs. We retrieved a total of 1,380 unique GVs. From these, 970 had information on their frequency in the general population and 143 have been linked to pathogenic phenotypes in humans. In vitro effect was ascertained for 38 GVs. The homeodomain had the biggest cluster of pathogenic variants in the protein: 49 GVs in 60 residues, 23 in its third α-helix, where 11 missense variants may affect protein-DNA interaction or the hydrophobic core. We also pinpointed the likely location of pathogenic GVs in four linear motifs. These analyses allowed us to assign a putative explanation for the effect of 90 GVs. This study pointed to reliable pathogenicity for GVs in helix 3 of the homeodomain and may broaden the scope of functional and structural studies that can be done to better understand the effect of GVs in NKX2-5 function. Description: Fil: Kolomenski, Jorge E. Departamento de Química Biológica Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, IQUIBICEN-CONICET; Buenos Aires, Argentina; Fil: Delea, Marisol. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Buenos Aires, Argentina; Fil: Simonetti, Leandro. Department of Chemistry-Biomedical Centre, Uppsala University; Uppsala, Sweden; Fil: Fabbro, Mónica. Laboratorio Novagen; Buenos Aires, Argentina; Fil: Espeche, Lucía D. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Buenos Aires, Argentina; Fil: Taboas, Melisa. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Buenos Aires, Argentina; Fil: Nadra, Alejandro D. Departamento de Química Biológica Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, IQUIBICEN-CONICET; Buenos Aires, Argentina; Fil: Bruque, Carlos. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Buenos Aires, Argentina; Fil: Dain, Liliana. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Buenos Aires, Argentina 2020-07-01T00:00:00Z