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2. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Author

Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A. van, Kroes, Hester Y., Stumpel, Constance T.R. M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Vries, Bert B.A. de, Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, and Banka, Siddharth

Published
2024
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4. Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome

Author

Ramond, Francis, Dalgliesh, Caroline, Grimmel, Mona, Wechsberg, Oded, Vetro, Annalisa, Guerrini, Renzo, FitzPatrick, David, Poole, Rebecca L., Lebrun, Marine, Bayat, Allan, Grasshoff, Ute, Bertrand, Miriam, Witt, Dennis, Turnpenny, Peter D., Faundes, Víctor, Santa María, Lorena, Mendoza Fuentes, Carolina, Mabe, Paulina, Hussain, Shaun A., Mullegama, Sureni V., Torti, Erin, Oehl-Jaschkowitz, Barbara, Salmon, Lina Basel, Orenstein, Naama, Shahar, Noa Ruhrman, Hagari, Ofir, Bazak, Lily, Hoffjan, Sabine, Prada, Carlos E., Haack, Tobias, and Elliott, David J.

Published
2023
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5. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Author

O’Donnell-Luria, Anne H, Pais, Lynn S, Faundes, Víctor, Wood, Jordan C, Sveden, Abigail, Luria, Victor, Jamra, Rami Abou, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A, Bianchini, Claudia, Bird, Lynne M, Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Study, Deciphering Developmental Disorders, McRae, Jeremy F, Clayton, Stephen, Fitzgerald, Tomas W, Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M, Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D, King, Daniel, Krishnappa, Netravathi, Mason, Laura E, Singh, Tarjinder, Tivey, Adrian R, Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J, Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N, Connell, Fiona, Cooper, Nicola, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, and Dobbie, Angus

Subjects
Biological Sciences, Genetics, Autism, Neurosciences, Brain Disorders, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Pediatric, Clinical Research, Epilepsy, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Adult, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Variation, Haploinsufficiency, Heterozygote, Humans, Infant, Male, Neurodevelopmental Disorders, Pedigree, Phenotype, Young Adult, Deciphering Developmental Disorders (DDD) Study, H3K4 methylation, KMT2E, autism, epilepsy, epileptic encephalopathy, global developmental delay, intellectual disability, neurodevelopmental disorder, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities.

Published
2019

6. Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile

Author

Poli, M. Cecilia, primary, Rebolledo-Jaramillo, Boris, additional, Lagos, Catalina, additional, Orellana, Joan, additional, Moreno, Gabriela, additional, Martín, Luz M., additional, Encina, Gonzalo, additional, Böhme, Daniela, additional, Faundes, Víctor, additional, Zavala, M. Jesús, additional, Hasbún, Trinidad, additional, Fischer, Sara, additional, Brito, Florencia, additional, Araya, Diego, additional, Lira, Manuel, additional, de la Cruz, Javiera, additional, Astudillo, Camila, additional, Lay-Son, Guillermo, additional, Cares, Carolina, additional, Aracena, Mariana, additional, Martin, Esteban San, additional, Coban-Akdemir, Zeynep, additional, Posey, Jennifer E., additional, Lupski, James R., additional, and Repetto, Gabriela M., additional

Published
2024
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8. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Author

Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, and Banka, Siddharth

Published
2021
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9. Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Author

Faundes, Víctor, Jennings, Martin D., Crilly, Siobhan, Legraie, Sarah, Withers, Sarah E., Cuvertino, Sara, Davies, Sally J., Douglas, Andrew G. L., Fry, Andrew E., Harrison, Victoria, Amiel, Jeanne, Lehalle, Daphné, Newman, William G., Newkirk, Patricia, Ranells, Judith, Splitt, Miranda, Cross, Laura A., Saunders, Carol J., Sullivan, Bonnie R., Granadillo, Jorge L., Gordon, Christopher T., Kasher, Paul R., Pavitt, Graham D., and Banka, Siddharth

Published
2021
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13. Tissue mosaicism,FMR1expression and intellectual functioning in males with fragile X syndrome

Author

Baker, Emma K., primary, Arpone, Marta, additional, Bui, Minh, additional, Kraan, Claudine M., additional, Ling, Ling, additional, Francis, David, additional, Hunter, Mathew F., additional, Rogers, Carolyn, additional, Field, Michael J., additional, Santa María, Lorena, additional, Faundes, Víctor, additional, Curotto, Bianca, additional, Morales, Paulina, additional, Trigo, Cesar, additional, Salas, Isabel, additional, Alliende, Angelica M., additional, Amor, David J., additional, and Godler, David E., additional

Published
2022
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17. Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.

Author

Baker, Emma K., Arpone, Marta, Bui, Minh, Kraan, Claudine M., Ling, Ling, Francis, David, Hunter, Mathew F., Rogers, Carolyn, Field, Michael J., Santa María, Lorena, Faundes, Víctor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M., Amor, David J., and Godler, David E.

Abstract

Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active‐unmethylated alleles has prognostic utility. This study examined relationships between FMR1 methylation in different tissues with FMR1 messenger ribonucleic acid (mRNA) and intellectual functioning in 87 males with FXS (1.89–43.17 years of age). Methylation sensitive Southern blot (mSB) and Methylation Specific‐Quantitative Melt Aanalysis (MS‐QMA) were used to examine FMR1 methylation. FMR1 mRNA levels in blood showed strong relationships with FMR1 methylation assessed using MS‐QMA in blood (n = 68; R2 = 0.597; p = 1.4 × 10−10) and buccal epithelial cells (BEC) (n = 62; R2 = 0.24; p = 0.003), with these measures also showing relationships with intellectual functioning scores (p < 0.01). However, these relationships were not as strong for mSB, with ~40% of males with only FM alleles that were 100% methylated and non‐mosaic by mSB, showing methylation mosaicism by MS‐QMA. This was confirmed through presence of detectable levels of FMR1 mRNA in blood. In summary, FMR1 methylation levels in blood and BEC examined by MS‐QMA were significantly associated with FMR1 mRNA levels and intellectual functioning in males with FXS. These relationships were not as strong for mSB, which underestimated prevalence of mosaicism. [ABSTRACT FROM AUTHOR]

Published
2023
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18. Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile

Author

Medina, María Fernanda, primary, Castro, Gabriela, additional, Falcon, Felipe, additional, Cabello, Juan Francisco, additional, Faundes, Víctor, additional, Ruffato, Diana, additional, Salazar, María Florencia, additional, Arias, Carolina, additional, Peñaloza, Felipe, additional, De La Parra, Alicia, additional, and Cornejo, Verónica, additional

Published
2021
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25. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6Avariants causing X-linked Kabuki syndrome type 2

Author

Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, and Banka, Siddharth

Abstract

The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood.

Published
2021
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26. Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas

Author

Faundes,Víctor, Santa María,Lorena, Morales,Paulina, Curotto,Bianca, and Alliende,María Angélica

Subjects
Comparative Genomic Hybridization, Neurodevelopmental Disorders, health care economics and organizations, humanities, Congenital Abnormalities
Abstract

Background: In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA). Aim: To analyze the results of CMA performed at the INTA Laboratory of Molecular Cytogenetics, during a period of four years in patients with NDD or CA. Material and Methods: Retrospective study that included all CMA reports of Chilean patients. Age, sex, clinical diagnosis and origin were analyzed, as well as the characteristics of the finding. The percentage of cases diagnosed by CMA was calculated considering all patients with pathogenic (PV) or probably pathogenic variants (VLP). Finally, we studied the association between patients’ characteristics and a positive CMA outcome. Results: A total of 236 reports were analyzed. The median age was 5.41 (range 2.25-9.33) years, and 59% were men. Ninety chromosomal imbalances were found, which corresponded mainly to deletions (53.3%), with a median size of 1.662 (range 0.553-6.673) Megabases. The diagnostic rate of CMA in Chilean patients from all over the country was 19.2%. There was a close relationship between the patient's sex and the detection of VLP/VP (p = 0.034). Conclusions: Our diagnostic rate and the association between female sex and a higher percentage of diagnosed cases are concordant with other international studies. Therefore, CMA is a valid diagnostic tool in the Chilean population.

Published
2017

27. Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities

Author

Faundes, Víctor, Santa María, Lorena, Morales, Paulina, Curotto, Bianca, and Alliende, María Angélica

Subjects
Comparative Genomic Hybridization, Neurodevelopmental Disorders, health care economics and organizations, humanities, Congenital Abnormalities
Abstract

Background: In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA). Aim: To analyze the results of CMA performed at the INTA Laboratory of Molecular Cytogenetics, during a period of four years in patients with NDD or CA. Material and Methods: Retrospective study that included all CMA reports of Chilean patients. Age, sex, clinical diagnosis and origin were analyzed, as well as the characteristics of the finding. The percentage of cases diagnosed by CMA was calculated considering all patients with pathogenic (PV) or probably pathogenic variants (VLP). Finally, we studied the association between patients’ characteristics and a positive CMA outcome. Results: A total of 236 reports were analyzed. The median age was 5.41 (range 2.25-9.33) years, and 59% were men. Ninety chromosomal imbalances were found, which corresponded mainly to deletions (53.3%), with a median size of 1.662 (range 0.553-6.673) Megabases. The diagnostic rate of CMA in Chilean patients from all over the country was 19.2%. There was a close relationship between the patient's sex and the detection of VLP/VP (p = 0.034). Conclusions: Our diagnostic rate and the association between female sex and a higher percentage of diagnosed cases are concordant with other international studies. Therefore, CMA is a valid diagnostic tool in the Chilean population.

Published
2017

28. Consenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre las anomalías congénitas de mal pronóstico vital (ACMPV): Genetics Consensus Committee

Author

Pardo Vargas,Rosa A, Aracena,Mariana, Aravena,Teresa, Cares,Carolina, Cortés,Fanny, Faundes,Víctor, Mellado,Cecilia, Passalacqua,Cristóbal, Sanz,Patricia, and Castillo Taucher,Silvia

Subjects
Aborto, Pronóstico, Anomalías congénitas, Alteraciones cromosómicas
Abstract

Introducción: La rama de genética de la Sociedad Chilena de Pediatría, en relación con el proyecto de ley que regula la despenalización de la interrupción voluntaria del embarazo en 3 causales, centrándose en la segunda causal que considera al «embrión o feto que padezca una alteración estructural congénita o genética incompatible con la vida extrauterina», se reunió para discutir conforme a la evidencia científica qué anomalías congénitas (AC) podrían ser incluidas en el proyecto de ley. Metodología: Los expertos en genética clínica se centraron en 10 AC. Se efectuó revisión bibliográfica y una reunión extraordinaria para discutirla. Resultados: Se acordó no emplear el término «incompatible con la vida extrauterina», pues existen excepciones de sobrevidas más prolongadas y cambiar por «anomalía congénita de mal pronóstico vital (ACMPV)». Se evaluaron 10 AC: defectos graves de cierre del tubo neural: anencefalia, iniencefalia y craneorraquisquisis, hipoplasia pulmonar, feto acardio, ectopia cordis, triploidía no mosaico, complejo limb body wall, anomalía body stalk, trisomía 13, trisomía 18 y agenesia renal bilateral. Se analizaron los hallazgos sobre prevalencia, historia natural, métodos diagnósticos prenatales, sobrevida, casos descritos de sobrevida prolongada. Para catalogarlas como ACMPV se consideraron: sobrevida posnatal, existencia de tratamientos y evolución posterior e historia natural sin intervenciones. Conclusión: Las ACMPV incluidas serían: anencefalia, hipoplasia pulmonar severa, feto acardio, ectopia cordis cervical, triploidía no mosaico, complejo limb body wall, anomalía body stalk, trisomía 13 no mosaico, trisomía 18 no mosaico y agenesia renal bilateral. Se requiere para el diagnóstico que toda mujer gestante tenga acceso a evaluaciones ecográficas de anatomía fetal, y en ocasiones a resonancia magnética y estudios citogenéticos y moleculares.

Published
2016

29. Consenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre las anomalías congénitas de mal pronóstico vital (ACMPV): Genetics Consensus Committee

Author

Pardo Vargas, Rosa A, Aracena, Mariana, Aravena, Teresa, Cares, Carolina, Cortés, Fanny, Faundes, Víctor, Mellado, Cecilia, Passalacqua, Cristóbal, Sanz, Patricia, and Castillo Taucher, Silvia

Subjects
Congenital anomalies, Aborto, Chromosomal aberrations, Pronóstico, Abortion, Anomalías congénitas, Alteraciones cromosómicas, Prognosis
Abstract

Introducción: La rama de genética de la Sociedad Chilena de Pediatría, en relación con el proyecto de ley que regula la despenalización de la interrupción voluntaria del embarazo en 3 causales, centrándose en la segunda causal que considera al «embrión o feto que padezca una alteración estructural congénita o genética incompatible con la vida extrauterina», se reunió para discutir conforme a la evidencia científica qué anomalías congénitas (AC) podrían ser incluidas en el proyecto de ley. Metodología: Los expertos en genética clínica se centraron en 10 AC. Se efectuó revisión bibliográfica y una reunión extraordinaria para discutirla. Resultados: Se acordó no emplear el término «incompatible con la vida extrauterina», pues existen excepciones de sobrevidas más prolongadas y cambiar por «anomalía congénita de mal pronóstico vital (ACMPV)». Se evaluaron 10 AC: defectos graves de cierre del tubo neural: anencefalia, iniencefalia y craneorraquisquisis, hipoplasia pulmonar, feto acardio, ectopia cordis, triploidía no mosaico, complejo limb body wall, anomalía body stalk, trisomía 13, trisomía 18 y agenesia renal bilateral. Se analizaron los hallazgos sobre prevalencia, historia natural, métodos diagnósticos prenatales, sobrevida, casos descritos de sobrevida prolongada. Para catalogarlas como ACMPV se consideraron: sobrevida posnatal, existencia de tratamientos y evolución posterior e historia natural sin intervenciones. Conclusión: Las ACMPV incluidas serían: anencefalia, hipoplasia pulmonar severa, feto acardio, ectopia cordis cervical, triploidía no mosaico, complejo limb body wall, anomalía body stalk, trisomía 13 no mosaico, trisomía 18 no mosaico y agenesia renal bilateral. Se requiere para el diagnóstico que toda mujer gestante tenga acceso a evaluaciones ecográficas de anatomía fetal, y en ocasiones a resonancia magnética y estudios citogenéticos y moleculares. Introduction: The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law. Methodology: Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it. Results: It was agreed not to use the term "incompatible with life outside the womb", as there are exceptions and longer survivals, and change to "congenital anomaly of poor prognosis (CAPP)". Ten CA were evaluated: serious defects of neural tube closure: anencephaly, iniencephaly and craniorachischisis, pulmonary hypoplasia, acardiac foetus, ectopia cordis, non-mosaic triploidy, "limb body wall" complex, "body stalk" anomaly, trisomy 13, trisomy 18, and bilateral renal agenesis. Findings on the prevalence, natural history, prenatal diagnostic methods, survival, and reported cases of prolonged survival were analysed. Post-natal survival, existence of treatments, and outcomes, as well as natural history without intervention, were taken into account in classifying a CA as a CAPP. Conclusion: A CAPP would be: anencephaly, severe pulmonary hypoplasia, acardiac foetus, cervical ectopia cordis, non-mosaic triploidy, limb body wall complex, body stalk anomaly, non-mosaic trisomy 13, non-mosaic trisomy 18, and bilateral renal agenesis. For their diagnosis, it is required that all pregnant women have access to assessments by foetal anatomy ultrasound and occasionally MRI, and cytogenetic and molecular testing.

Published
2016

30. Ibero–American Consensus on Low- and No-Calorie Sweeteners: Safety, Nutritional Aspects and Benefits in Food and Beverages

Author

Serra-Majem, Lluis, primary, Raposo, António, additional, Aranceta-Bartrina, Javier, additional, Varela-Moreiras, Gregorio, additional, Logue, Caomhan, additional, Laviada, Hugo, additional, Socolovsky, Susana, additional, Pérez-Rodrigo, Carmen, additional, Aldrete-Velasco, Jorge, additional, Meneses Sierra, Eduardo, additional, López-García, Rebeca, additional, Ortiz-Andrellucchi, Adriana, additional, Gómez-Candela, Carmen, additional, Abreu, Rodrigo, additional, Alexanderson, Erick, additional, Álvarez-Álvarez, Rolando, additional, Álvarez Falcón, Ana, additional, Anadón, Arturo, additional, Bellisle, France, additional, Beristain-Navarrete, Ina, additional, Blasco Redondo, Raquel, additional, Bochicchio, Tommaso, additional, Camolas, José, additional, Cardini, Fernando, additional, Carocho, Márcio, additional, Costa, Maria, additional, Drewnowski, Adam, additional, Durán, Samuel, additional, Faundes, Víctor, additional, Fernández-Condori, Roxana, additional, García-Luna, Pedro, additional, Garnica, Juan, additional, González-Gross, Marcela, additional, La Vecchia, Carlo, additional, Leis, Rosaura, additional, López-Sobaler, Ana, additional, Madero, Miguel, additional, Marcos, Ascensión, additional, Mariscal Ramírez, Luis, additional, Martyn, Danika, additional, Mistura, Lorenza, additional, Moreno Rojas, Rafael, additional, Moreno Villares, José, additional, Niño-Cruz, José, additional, Oliveira, María, additional, Palacios Gil-Antuñano, Nieves, additional, Pérez-Castells, Lucía, additional, Ribas-Barba, Lourdes, additional, Rincón Pedrero, Rodolfo, additional, Riobó, Pilar, additional, Rivera Medina, Juan, additional, Tinoco de Faria, Catarina, additional, Valdés-Ramos, Roxana, additional, Vasco, Elsa, additional, Wac, Sandra, additional, Wakida, Guillermo, additional, Wanden-Berghe, Carmina, additional, Xóchihua Díaz, Luis, additional, Zúñiga-Guajardo, Sergio, additional, Pyrogianni, Vasiliki, additional, and Cunha Velho de Sousa, Sérgio, additional

Published
2018
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31. Patients With Fragile X Syndrome Attending a Specialized Centre in Chile: Parent Satisfaction, Costs and Adherence

Author

Faundes, Víctor, primary, Salas, Isabel, additional, Correa-Burrows, Paulina, additional, Soto, Paula, additional, Peña, María Ignacia, additional, Pugin, Ángela, additional, Bravo, Paulina, additional, Santa María, Lorena, additional, Morales, Paulina, additional, Curotto, Bianca, additional, Aliaga, Solange, additional, and Alliende, María Angélica, additional

Published
2018
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32. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Author

Faundes, Víctor, primary, Newman, William G., additional, Bernardini, Laura, additional, Canham, Natalie, additional, Clayton-Smith, Jill, additional, Dallapiccola, Bruno, additional, Davies, Sally J., additional, Demos, Michelle K., additional, Goldman, Amy, additional, Gill, Harinder, additional, Horton, Rachel, additional, Kerr, Bronwyn, additional, Kumar, Dhavendra, additional, Lehman, Anna, additional, McKee, Shane, additional, Morton, Jenny, additional, Parker, Michael J., additional, Rankin, Julia, additional, Robertson, Lisa, additional, Temple, I. Karen, additional, Banka, Siddharth, additional, Adam, Shelin, additional, du Souich, Christèle, additional, Elliott, Alison M., additional, Mwenifumbo, Jill, additional, Nelson, Tanya N., additional, van Karnebeek, Clara, additional, Friedman, Jan M., additional, McRae, Jeremy F., additional, Clayton, Stephen, additional, Fitzgerald, Tomas W., additional, Kaplanis, Joanna, additional, Prigmore, Elena, additional, Rajan, Diana, additional, Sifrim, Alejandro, additional, Aitken, Stuart, additional, Akawi, Nadia, additional, Alvi, Mohsan, additional, Ambridge, Kirsty, additional, Barrett, Daniel M., additional, Bayzetinova, Tanya, additional, Jones, Philip, additional, Jones, Wendy D., additional, King, Daniel, additional, Krishnappa, Netravathi, additional, Mason, Laura E., additional, Singh, Tarjinder, additional, Tivey, Adrian R., additional, Ahmed, Munaza, additional, Anjum, Uruj, additional, Archer, Hayley, additional, Armstrong, Ruth, additional, Awada, Jana, additional, Balasubramanian, Meena, additional, Baralle, Diana, additional, Barnicoat, Angela, additional, Batstone, Paul, additional, Baty, David, additional, Bennett, Chris, additional, Berg, Jonathan, additional, Bernhard, Birgitta, additional, Bevan, A. Paul, additional, Bitner-Glindzicz, Maria, additional, Blair, Edward, additional, Blyth, Moira, additional, Bohanna, David, additional, Bourdon, Louise, additional, Bourn, David, additional, Bradley, Lisa, additional, Brady, Angela, additional, Brent, Simon, additional, Brewer, Carole, additional, Brunstrom, Kate, additional, Bunyan, David J., additional, Burn, John, additional, Castle, Bruce, additional, Chandler, Kate, additional, Chatzimichali, Elena, additional, Cilliers, Deirdre, additional, Clarke, Angus, additional, Clasper, Susan, additional, Clowes, Virginia, additional, Coates, Andrea, additional, Cole, Trevor, additional, Colgiu, Irina, additional, Collins, Amanda, additional, Collinson, Morag N., additional, Connell, Fiona, additional, Cooper, Nicola, additional, Cox, Helen, additional, Cresswell, Lara, additional, Cross, Gareth, additional, Crow, Yanick, additional, D’Alessandro, Mariella, additional, Dabir, Tabib, additional, Davidson, Rosemarie, additional, Davies, Sally, additional, de Vries, Dylan, additional, Dean, John, additional, Deshpande, Charu, additional, Devlin, Gemma, additional, Dixit, Abhijit, additional, Dobbie, Angus, additional, Donaldson, Alan, additional, Donnai, Dian, additional, Donnelly, Deirdre, additional, Donnelly, Carina, additional, Douglas, Angela, additional, Douzgou, Sofia, additional, Duncan, Alexis, additional, Eason, Jacqueline, additional, Ellard, Sian, additional, Ellis, Ian, additional, Elmslie, Frances, additional, Evans, Karenza, additional, Everest, Sarah, additional, Fendick, Tina, additional, Fisher, Richard, additional, Flinter, Frances, additional, Foulds, Nicola, additional, Fry, Andrew, additional, Fryer, Alan, additional, Gardiner, Carol, additional, Gaunt, Lorraine, additional, Ghali, Neeti, additional, Gibbons, Richard, additional, Goodship, Judith, additional, Goudie, David, additional, Gray, Emma, additional, Green, Andrew, additional, Greene, Philip, additional, Greenhalgh, Lynn, additional, Gribble, Susan, additional, Harrison, Rachel, additional, Harrison, Lucy, additional, Harrison, Victoria, additional, Hawkins, Rose, additional, He, Liu, additional, Hellens, Stephen, additional, Henderson, Alex, additional, Hewitt, Sarah, additional, Hildyard, Lucy, additional, Hobson, Emma, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hollingsworth, Georgina, additional, Homfray, Tessa, additional, Humphreys, Mervyn, additional, Hurst, Jane, additional, Hutton, Ben, additional, Ingram, Stuart, additional, Irving, Melita, additional, Islam, Lily, additional, Jackson, Andrew, additional, Jarvis, Joanna, additional, Jenkins, Lucy, additional, Johnson, Diana, additional, Jones, Elizabeth, additional, Josifova, Dragana, additional, Joss, Shelagh, additional, Kaemba, Beckie, additional, Kazembe, Sandra, additional, Kelsell, Rosemary, additional, Kingston, Helen, additional, Kini, Usha, additional, Kinning, Esther, additional, Kirby, Gail, additional, Kirk, Claire, additional, Kivuva, Emma, additional, Kraus, Alison, additional, Kumar, V.K. Ajith, additional, Lachlan, Katherine, additional, Lam, Wayne, additional, Lampe, Anne, additional, Langman, Caroline, additional, Lees, Melissa, additional, Lim, Derek, additional, Longman, Cheryl, additional, Lowther, Gordon, additional, Lynch, Sally A., additional, Magee, Alex, additional, Maher, Eddy, additional, Male, Alison, additional, Mansour, Sahar, additional, Marks, Karen, additional, Martin, Katherine, additional, Maye, Una, additional, McCann, Emma, additional, McConnell, Vivienne, additional, McEntagart, Meriel, additional, McGowan, Ruth, additional, McKay, Kirsten, additional, McMullan, Dominic J., additional, McNerlan, Susan, additional, McWilliam, Catherine, additional, Mehta, Sarju, additional, Metcalfe, Kay, additional, Middleton, Anna, additional, Miedzybrodzka, Zosia, additional, Miles, Emma, additional, Mohammed, Shehla, additional, Montgomery, Tara, additional, Moore, David, additional, Morgan, Sian, additional, Mugalaasi, Hood, additional, Murday, Victoria, additional, Murphy, Helen, additional, Naik, Swati, additional, Nemeth, Andrea, additional, Nevitt, Louise, additional, Newbury-Ecob, Ruth, additional, Norman, Andrew, additional, O’Shea, Rosie, additional, Ogilvie, Caroline, additional, Ong, Kai-Ren, additional, Park, Soo-Mi, additional, Patel, Chirag, additional, Paterson, Joan, additional, Payne, Stewart, additional, Perrett, Daniel, additional, Phipps, Julie, additional, Pilz, Daniela T., additional, Pollard, Martin, additional, Pottinger, Caroline, additional, Poulton, Joanna, additional, Pratt, Norman, additional, Prescott, Katrina, additional, Price, Sue, additional, Pridham, Abigail, additional, Procter, Annie, additional, Purnell, Hellen, additional, Quarrell, Oliver, additional, Ragge, Nicola, additional, Rahbari, Raheleh, additional, Randall, Josh, additional, Raymond, Lucy, additional, Rice, Debbie, additional, Robert, Leema, additional, Roberts, Eileen, additional, Roberts, Jonathan, additional, Roberts, Paul, additional, Roberts, Gillian, additional, Ross, Alison, additional, Rosser, Elisabeth, additional, Saggar, Anand, additional, Samant, Shalaka, additional, Sampson, Julian, additional, Sandford, Richard, additional, Sarkar, Ajoy, additional, Schweiger, Susann, additional, Scott, Richard, additional, Scurr, Ingrid, additional, Selby, Ann, additional, Seller, Anneke, additional, Sequeira, Cheryl, additional, Shannon, Nora, additional, Sharif, Saba, additional, Shaw-Smith, Charles, additional, Shearing, Emma, additional, Shears, Debbie, additional, Sheridan, Eamonn, additional, Simonic, Ingrid, additional, Singzon, Roldan, additional, Skitt, Zara, additional, Smith, Audrey, additional, Smith, Kath, additional, Smithson, Sarah, additional, Sneddon, Linda, additional, Splitt, Miranda, additional, Squires, Miranda, additional, Stewart, Fiona, additional, Stewart, Helen, additional, Straub, Volker, additional, Suri, Mohnish, additional, Sutton, Vivienne, additional, Swaminathan, Ganesh Jawahar, additional, Sweeney, Elizabeth, additional, Tatton-Brown, Kate, additional, Taylor, Cat, additional, Taylor, Rohan, additional, Tein, Mark, additional, Thomson, Jenny, additional, Tischkowitz, Marc, additional, Tomkins, Susan, additional, Torokwa, Audrey, additional, Treacy, Becky, additional, Turner, Claire, additional, Turnpenny, Peter, additional, Tysoe, Carolyn, additional, Vandersteen, Anthony, additional, Varghese, Vinod, additional, Vasudevan, Pradeep, additional, Vijayarangakannan, Parthiban, additional, Vogt, Julie, additional, Wakeling, Emma, additional, Wallwark, Sarah, additional, Waters, Jonathon, additional, Weber, Astrid, additional, Wellesley, Diana, additional, Whiteford, Margo, additional, Widaa, Sara, additional, Wilcox, Sarah, additional, Wilkinson, Emily, additional, Williams, Denise, additional, Williams, Nicola, additional, Wilson, Louise, additional, Woods, Geoff, additional, Wragg, Christopher, additional, Wright, Michael, additional, Yates, Laura, additional, Yau, Michael, additional, Nellåker, Chris, additional, Parker, Michael, additional, Firth, Helen V., additional, Wright, Caroline F., additional, FitzPatrick, David R., additional, Barrett, Jeffrey C., additional, and . Hurles, Matthew E., additional

Published
2018
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34. Consenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre las anomalías congénitas de mal pronóstico vital (ACMPV)

Author

Pardo Vargas, Rosa A., primary, Aracena, Mariana, additional, Aravena, Teresa, additional, Cares, Carolina, additional, Cortés, Fanny, additional, Faundes, Víctor, additional, Mellado, Cecilia, additional, Passalacqua, Cristóbal, additional, Sanz, Patricia, additional, and Castillo Taucher, Silvia, additional

Published
2016
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35. Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis

Author

Aliaga, Solange M, primary, Slater, Howard R, primary, Francis, David, primary, Du Sart, Desiree, primary, Li, Xin, primary, Amor, David J, primary, Alliende, Angelica M, primary, Santa Maria, Lorena, primary, Faundes, Víctor, primary, Morales, Paulina, primary, Trigo, Cesar, primary, Salas, Isabel, primary, Curotto, Bianca, primary, and Godler, David E, primary

Published
2016
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38. A comparative analysis of KMT2Dmissense variants in Kabuki syndrome, cancers and the general population

Author

Faundes, Víctor, Malone, Geraldine, Newman, William G., and Banka, Siddharth

Abstract

Determining the clinical significance of germline and somatic KMT2Dmissense variants (MVs) in Kabuki syndrome (KS) and cancers can be challenging. We analysed 1920 distinct KMT2DMVs that included 1535 germline MVs in controls (Control-MVs), 584 somatic MVs in cancers (Cancer-MVs) and 201 MV in individuals with KS (KS-MVs). The proportion of MVs likely to affect splicing was significantly higher for Cancer-MVs and KS-MVs than in Control-MVs (p= 0.000018). Our analysis identified significant clustering of Cancer-MVs and KS-MVs in the PHD#3 and #4, RING#4 and SET domains. Areas of enrichment restricted to just Cancer-MVs (FYR-C and between amino acids 3043–3248) or KS-MVs (coiled-coil#5, FYR-N and between amino acids 4995–5090) were also found. Cancer-MVs and KS-MVs tended to affect more conserved residues (lower BLOSUM scores, p< 0.001 and p= 0.007). KS-MVs are more likely to increase the energy for protein folding (higher ELASPIC ∆∆Gscores, p= 0.03). Cancer-MVs are more likely to disrupt protein interactions (higher StructMAn scores, p= 0.019). We reclassify several presumed pathogenic MVs as benign or as variants of uncertain significance. We raise the possibility of as yet unrecognised ‘non-KS’ phenotype(s) associated with some germline pathogenic KMT2DMVs. Overall, this work provides insights into the disease mechanism of KMT2Dvariants and can be extended to other genes, mutations in which also cause developmental syndromes and cancer.

Published
2019
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41. Clustered variants in the 5′ coding region of TRA2Bcause a distinctive neurodevelopmental syndrome

Author

Ramond, Francis, Dalgliesh, Caroline, Grimmel, Mona, Wechsberg, Oded, Vetro, Annalisa, Guerrini, Renzo, FitzPatrick, David, Poole, Rebecca L., Lebrun, Marine, Bayat, Allan, Grasshoff, Ute, Bertrand, Miriam, Witt, Dennis, Turnpenny, Peter D., Faundes, Víctor, Santa María, Lorena, Mendoza Fuentes, Carolina, Mabe, Paulina, Hussain, Shaun A., Mullegama, Sureni V., Torti, Erin, Oehl-Jaschkowitz, Barbara, Salmon, Lina Basel, Orenstein, Naama, Shahar, Noa Ruhrman, Hagari, Ofir, Bazak, Lily, Hoffjan, Sabine, Prada, Carlos E., Haack, Tobias, and Elliott, David J.

Abstract

Transformer2 proteins (Tra2α and Tra2β) control splicing patterns in human cells, and no human phenotypes have been associated with germline variants in these genes. The aim of this work was to associate germline variants in the TRA2Bgene to a novel neurodevelopmental disorder.

Published
2023
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46. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Author

O'Donnell-Luria, Anne H., Pais, Lynn S., Faundes, Víctor, Wood, Jordan C., Sveden, Abigail, Luria, Victor, Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A., Bianchini, Claudia, Bird, Lynne M., Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, and Culliton, Lisa

Subjects
*EPILEPSY, *DISABILITIES, *DEVELOPMENTAL delay, *INTELLECTUAL disabilities, *DISEASES
Abstract

We delineate a KMT2E -related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo , and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities. [ABSTRACT FROM AUTHOR]

Published
2019
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47. Ibero⁻American Consensus on Low- and No-Calorie Sweeteners: Safety, Nutritional Aspects and Benefits in Food and Beverages.

Author

Serra-Majem L, Raposo A, Aranceta-Bartrina J, Varela-Moreiras G, Logue C, Laviada H, Socolovsky S, Pérez-Rodrigo C, Aldrete-Velasco JA, Meneses Sierra E, López-García R, Ortiz-Andrellucchi A, Gómez-Candela C, Abreu R, Alexanderson E, Álvarez-Álvarez RJ, Álvarez Falcón AL, Anadón A, Bellisle F, Beristain-Navarrete IA, Blasco Redondo R, Bochicchio T, Camolas J, Cardini FG, Carocho M, Costa MDC, Drewnowski A, Durán S, Faundes V, Fernández-Condori R, García-Luna PP, Garnica JC, González-Gross M, La Vecchia C, Leis R, López-Sobaler AM, Madero MA, Marcos A, Mariscal Ramírez LA, Martyn DM, Mistura L, Moreno Rojas R, Moreno Villares JM, Niño-Cruz JA, Oliveira MBPP, Palacios Gil-Antuñano N, Pérez-Castells L, Ribas-Barba L, Rincón Pedrero R, Riobó P, Rivera Medina J, Tinoco de Faria C, Valdés-Ramos R, Vasco E, Wac SN, Wakida G, Wanden-Berghe C, Xóchihua Díaz L, Zúñiga-Guajardo S, Pyrogianni V, and Cunha Velho de Sousa S

Subjects
Animals, Beverages adverse effects, Blood Glucose metabolism, Consensus, Diabetes Mellitus blood, Diabetes Mellitus epidemiology, Diabetes Mellitus therapy, Energy Intake, Food adverse effects, Food Labeling standards, Humans, Non-Nutritive Sweeteners adverse effects, Nutritive Sweeteners adverse effects, Obesity epidemiology, Obesity physiopathology, Obesity therapy, Recommended Dietary Allowances, Risk Assessment, Weight Loss, Beverages standards, Consumer Product Safety standards, Food standards, Food Safety, Non-Nutritive Sweeteners standards, Nutritive Sweeteners standards, Nutritive Value
Abstract

International scientific experts in food, nutrition, dietetics, endocrinology, physical activity, paediatrics, nursing, toxicology and public health met in Lisbon on 2⁻4 July 2017 to develop a Consensus on the use of low- and no-calorie sweeteners (LNCS) as substitutes for sugars and other caloric sweeteners. LNCS are food additives that are broadly used as sugar substitutes to sweeten foods and beverages with the addition of fewer or no calories. They are also used in medicines, health-care products, such as toothpaste, and food supplements. The goal of this Consensus was to provide a useful, evidence-based, point of reference to assist in efforts to reduce free sugars consumption in line with current international public health recommendations. Participating experts in the Lisbon Consensus analysed and evaluated the evidence in relation to the role of LNCS in food safety, their regulation and the nutritional and dietary aspects of their use in foods and beverages. The conclusions of this Consensus were: (1) LNCS are some of the most extensively evaluated dietary constituents, and their safety has been reviewed and confirmed by regulatory bodies globally including the World Health Organisation, the US Food and Drug Administration and the European Food Safety Authority; (2) Consumer education, which is based on the most robust scientific evidence and regulatory processes, on the use of products containing LNCS should be strengthened in a comprehensive and objective way; (3) The use of LNCS in weight reduction programmes that involve replacing caloric sweeteners with LNCS in the context of structured diet plans may favour sustainable weight reduction. Furthermore, their use in diabetes management programmes may contribute to a better glycaemic control in patients, albeit with modest results. LNCS also provide dental health benefits when used in place of free sugars; (4) It is proposed that foods and beverages with LNCS could be included in dietary guidelines as alternative options to products sweetened with free sugars; (5) Continued education of health professionals is required, since they are a key source of information on issues related to food and health for both the general population and patients. With this in mind, the publication of position statements and consensus documents in the academic literature are extremely desirable.

Published
2018
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48. [Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities].

Author

Faundes V, Santa María L, Morales P, Curotto B, and Alliende MA

Subjects
Child, Child, Preschool, Chile, Female, Humans, Male, Retrospective Studies, Congenital Abnormalities diagnosis, Congenital Abnormalities genetics, Microarray Analysis methods, Neurodevelopmental Disorders diagnosis, Neurodevelopmental Disorders genetics
Abstract

Background: In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA)., Aim: To analyze the results of CMA performed at the INTA Laboratory of Molecular Cytogenetics, during a period of four years in patients with NDD or CA., Material and Methods: Retrospective study that included all CMA reports of Chilean patients. Age, sex, clinical diagnosis and origin were analyzed, as well as the characteristics of the finding. The percentage of cases diagnosed by CMA was calculated considering all patients with pathogenic (PV) or probably pathogenic variants (VLP). Finally, we studied the association between patients' characteristics and a positive CMA outcome., Results: A total of 236 reports were analyzed. The median age was 5.41 (range 2.25-9.33) years, and 59% were men. Ninety chromosomal imbalances were found, which corresponded mainly to deletions (53.3%), with a median size of 1.662 (range 0.553-6.673) Megabases. The diagnostic rate of CMA in Chilean patients from all over the country was 19.2%. There was a close relationship between the patient's sex and the detection of VLP/VP (p = 0.034)., Conclusions: Our diagnostic rate and the association between female sex and a higher percentage of diagnosed cases are concordant with other international studies. Therefore, CMA is a valid diagnostic tool in the Chilean population.

Published
2017
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49. [Congenital anomalies of poor prognosis. Genetics Consensus Committee].

Author

Pardo Vargas RA, Aracena M, Aravena T, Cares C, Cortés F, Faundes V, Mellado C, Passalacqua C, Sanz P, and Castillo Taucher S

Subjects
Abortion, Legal legislation & jurisprudence, Chile, Congenital Abnormalities physiopathology, Consensus, Female, Humans, Pregnancy, Prognosis, Abortion, Eugenic legislation & jurisprudence, Congenital Abnormalities diagnosis, Prenatal Diagnosis methods
Abstract

Introduction: The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law., Methodology: Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it., Results: It was agreed not to use the term "incompatible with life outside the womb", as there are exceptions and longer survivals, and change to "congenital anomaly of poor prognosis (CAPP)". Ten CA were evaluated: serious defects of neural tube closure: anencephaly, iniencephaly and craniorachischisis, pulmonary hypoplasia, acardiac foetus, ectopia cordis, non-mosaic triploidy, "limb body wall" complex, "body stalk" anomaly, trisomy 13, trisomy 18, and bilateral renal agenesis. Findings on the prevalence, natural history, prenatal diagnostic methods, survival, and reported cases of prolonged survival were analysed. Post-natal survival, existence of treatments, and outcomes, as well as natural history without intervention, were taken into account in classifying a CA as a CAPP., Conclusion: A CAPP would be: anencephaly, severe pulmonary hypoplasia, acardiac foetus, cervical ectopia cordis, non-mosaic triploidy, limb body wall complex, body stalk anomaly, non-mosaic trisomy 13, non-mosaic trisomy 18, and bilateral renal agenesis. For their diagnosis, it is required that all pregnant women have access to assessments by foetal anatomy ultrasound and occasionally MRI, and cytogenetic and molecular testing., (Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)

Published
2016
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50. [Genetics of congenital deafness].

Author

Faundes V, Pardo RA, and Castillo Taucher S

Subjects
Abnormalities, Multiple diagnosis, Abnormalities, Multiple epidemiology, Abnormalities, Multiple genetics, Deafness diagnosis, Deafness epidemiology, Developed Countries, Genetic Counseling, Genetic Markers, Genetic Testing, Hearing Loss, Sensorineural diagnosis, Hearing Loss, Sensorineural epidemiology, Humans, Syndrome, Deafness congenital, Deafness genetics, Hearing Loss, Sensorineural congenital, Hearing Loss, Sensorineural genetics
Abstract

Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals., (Copyright © 2012 Elsevier España, S.L. All rights reserved.)

Published
2012
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