REPETTO LISBOA, MARIA GABRIELA
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REPETTO LISBOA, MARIA GABRIELA
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grepetto@udd.cl
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57198456305

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Medicina genómica y de precisión

2019 , REPETTO LISBOA, MARIA GABRIELA

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Genomic Initiatives on Rare Diseases in Latin America

2018 , REPETTO LISBOA, MARIA GABRIELA

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Genomic analysis in Chilean pediatric patients with drug-resistant epilepsy

2023 , REPETTO LISBOA, MARIA GABRIELA , PEREZ PALMA, EDUARDO ESTEBAN , Venegas, V. , Villaman, C. , Zakharova, A. , Berrios, D. , Lagos, C. , Cavada, G. , Carrasco, X. , Manriquez, M. , Buron, V.

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Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis

2024 , Florencia Brito , Catalina Lagos , Jessica Cubillos , Joan Orellana , Mallen Gajardo , Daniela Böhme , Gonzalo Encina , REPETTO LISBOA, MARIA GABRIELA

Introduction: Rett syndrome (RTT, MIM #312750) is a rare genetic disorder that leads to developmental regression and severe disability and is caused by pathogenic variants in the MECP2 gene. The diagnosis of RTT is based on clinical features and, depending on resources and access, on molecular confirmation. There is scarce information on molecular diagnosis from patients in Latin America, mostly due to limited availability and coverage of genomic testing. This pilot study aimed to implement genomic testing and characterize clinical and molecular findings in a group of Chilean patients with a clinical diagnosis of RTT.Methods: Twenty-eight patients with suspected RTT underwent characterization of phenotypic manifestations and molecular testing using Clinical Exome SolutionTM CES_V2 by SOPHiA Genetics. Data was analyzed using the commercial bioinformatics platform, SOPHiA DDMTM. A virtual panel of 34 genes, including MECP2 and other genes that are in the differential diagnosis of RTT, was used to prioritize initial analyses, followed by evaluation of the complete exome sequence data.Results: Twelve patients (42.8% of participants) had variants in MECP2, of which 11 (39.2%) were interpreted as pathogenic/likely pathogenic (P/LP), thus confirming the diagnosis of RTT in them. Eight additional patients (28.5%) harbored ten variants in nine other genes. Four of these variants were interpreted as P/LP (14.2%) (GRIN2B, MADD, TRPM3 and ZEB2) resulting in alternative neurodevelopmental diagnoses, and six were considered of uncertain significance. No evident candidate variant was found for eight patients.Discussion: This study allowed to reach a diagnosis in half of the participants. The diagnosis of RTT was confirmed in over a third of them, while others were found to have alternative neurodevelopmental disorders. Further evaluation is needed to identify the cause in those with negative or uncertain results. This information is useful for the patients, families, and clinicians to guide clinical management, even more so since the development of novel therapies for RTT. We also show the feasibility of implementing a step-wide approach to genomic testing in a setting with limited resources.

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Nistagmo secundario a albinismo con compromiso ocular en paciente femenina

2020 , Luisa Schonhaut B. , Joanna Britzmann L. , Mario Zanolli S. , Jovanka Pavlov N. , Trinidad Hasbun Z. , REPETTO LISBOA, MARIA GABRIELA

El nistagmo infantil es infrecuente y representa un desafío diagnóstico para el pediatra. El albinismo es una de sus principales causas, siendo difícil de sospechar en ausencia de compromiso cutáneo evidente, especialmente en pacientes femeninas, debido a que tipo de herencia del albinismo ocular.Objetivo: Describir un caso de nistagmo secundario a albinismo con compromiso ocular aislado en paciente femenina, para discutir el enfoque diagnóstico pediátrico.Caso Clínico: Paciente femenino de 3 semanas de vida, sin antecedentes mórbidos, derivada a neuropediatra y oftalmólogo por movimientos oculares paroxísticos desde las 2 semanas, con estudio con electroencefalograma e imágenes cerebrales normales. A los 3 meses se confirmó translucencia iridiana, nistagmo y astigmatismo hipermetrópico. La valuación dermatológica descartó compromiso cutáneo. Evolucionó con inclinación cefálica hacia abajo y retraso del desarrollo de la coordinación, fue manejada con lentes de corrección y kinesioterapia. A los 3 años, destacaba mejoría de la agudeza visual, disminución del nistagmo y neurodesarrollo normal. La evaluación oftalmológica de ambos padres fue normal y no había antecedentes de nistagmo o albinismo en la familia. Por decisión de los padres no se realizó estudio genético.Conclusión: El diagnóstico de nistagmo secundario a compromiso ocular del albinismo, aún en ausencia de afección cutánea, es clínico; el estudio genético permite confirmar la etiología, sin ser un examen imprescindible, a menos que se considere la planificación familiar. La pesquisa oportuna e intervención multidisciplinaria determinan un mejor pronóstico.

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Effect of VKORC1 and CYP2C9 variants on dosage of oral anticoagulants in Chilean individuals

2015 , BENAVIDES GONZALEZ, FELIPE ORLANDO , Nicole Grossman , Helena Poggi , Elena Nieto , Antonio Bertrán , Daniel Araos , Marcos Vásquez , Ignaz Ibarra , Felipe Cáceres , Karena Espinoza , Marcel Lagos , REPETTO LISBOA, MARIA GABRIELA

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Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

2017 , Anne S. Bassett , Chelsea Lowther , Daniele Merico , Gregory Costain , Eva W. C. Chow , Therese van Amelsvoort , Donna McDonald-McGinn , Raquel E. Gur , Ann Swillen , Marianne Van den Bree , Kieran Murphy , Doron Gothelf , Carrie E. Bearden , Stephan Eliez , Wendy Kates , Nicole Philip , Vandana Sashi , Linda Campbell , Jacob Vorstman , Joseph Cubells , Gabriela M. Repetto , Tony Simon , Erik Boot , Tracy Heung , Rens Evers , Claudia Vingerhoets , Esther van Duin , Elaine Zackai , Elfi Vergaelen , Koen Devriendt , Joris R. Vermeesch , Michael Owen , Clodagh Murphy , Elena Michaelovosky , Leila Kushan , Maude Schneider , Wanda Fremont , Tiffany Busa , Stephen Hooper , Kathryn McCabe , Sasja Duijff , Karin Isaev , Giovanna Pellecchia , John Wei , Matthew J. Gazzellone , Stephen W. Scherer , Beverly S. Emanuel , Tingwei Guo , Bernice E. Morrow , Christian R. Marshall

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Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function

2024 , Murat Alpaslan , Elodie Fastré , Sandrine Mestre , Arie van Haeringen , REPETTO LISBOA, MARIA GABRIELA , Kathelijn Keymolen , Laurence M Boon , Florence Belva , Guido Giacalone , Nicole Revencu , Yves Sznajer , Katie Riches , Vaughan Keeley , Sahar Mansour , Kristiana Gordon , Silvia Martin-Almedina , Sara Dobbins , Pia Ostergaard , Isabelle Quere , Pascal Brouillard , Miikka Vikkula

Abstract Developmental and functional defects in the lymphatic system are responsible for primary lymphoedema (PL). PL is a chronic debilitating disease caused by increased accumulation of interstitial fluid, predisposing to inflammation, infections and fibrosis. There is no cure, only symptomatic treatment is available. Thirty-two genes or loci have been linked to PL, and another 22 are suggested, including Hepatocyte Growth Factor (HGF). We searched for HGF variants in 770 index patients from the Brussels PL cohort. We identified ten variants predicted to cause HGF loss-of-function (six nonsense, two frameshifts, and two splice-site changes; 1.3% of our cohort), and 14 missense variants predicted to be pathogenic in 17 families (2.21%). We studied co-segregation within families, mRNA stability for non-sense variants, and in vitro functional effects of the missense variants. Analyses of the mRNA of patient cells revealed degradation of the nonsense mutant allele. Reduced protein secretion was detected for nine of the 14 missense variants expressed in COS-7 cells. Stimulation of lymphatic endothelial cells with these 14 HGF variant proteins resulted in decreased activation of the downstream targets AKT and ERK1/2 for three of them. Clinically, HGF-associated PL was diverse, but predominantly bilateral in the lower limbs with onset varying from early childhood to adulthood. Finally, aggregation study in a second independent cohort underscored that rare likely pathogenic variants in HGF explain about 2% of PL. Therefore, HGF signalling seems crucial for lymphatic development and/or maintenance in human beings and HGF should be included in diagnostic genetic screens for PL.

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Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

2024 , Gareth Baynam , Daria Julkowska , Sarah Bowdin , Azure Hermes , Christopher R. McMaster , Elissa Prichep , Étienne Richer , Francois H. van der Westhuizen , REPETTO LISBOA, MARIA GABRIELA , Helen Malherbe , Juergen K. V. Reichardt , Laura Arbour , Maui Hudson , Kelly du Plessis , Melissa Haendel , Phillip Wilcox , Sally Ann Lynch , Shamir Rind , Simon Easteal , Xavier Estivill , Nadine Caron , Meck Chongo , Yarlalu Thomas , Mary Catherine V. Letinturier , Barend Christiaan Vorster

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Los autores aludidos ofrecieron la siguiente réplica

2016 , REPETTO LISBOA, MARIA GABRIELA , BENAVIDES GONZALEZ, FELIPE ORLANDO , DELGADO BECERRA, OROZIMBA IRIS

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