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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Fibrosis Quística Parte 1

2017 , REPETTO LISBOA, MARIA GABRIELA

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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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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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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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Genomic Initiatives on Rare Diseases in Latin America

2018 , REPETTO LISBOA, MARIA GABRIELA

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Sociodemographic risk factors of hantavirus cardiopulmonary syndrome ^[Factores de riesgo socio-demográficos del síndrome]

2019 , VIAL COX, MARIA CECILIA , Francisca Valdivieso R. , Analía Cuiza V. , Iris Delgado B. , Grazielle Ribeiro E. , Elena Llop R. , Marcela Ferrés G. , REPETTO LISBOA, MARIA GABRIELA , Raúl Riquelme O. , M. Luisa Rioseco Z. , Mario Calvo A. , Gregory Mertz , VIAL CLARO, PABLO AGUSTIN

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VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

2009 , CALDERON GIADROSIC, JUAN FRANCISCO , ALONSO R PUGA , M. LUISA GUZMÁN , CARMEN PAZ ASTETE , MARTA ARRIAZA , MARIANA ARACENA , TERESA ARAVENA , PATRICIA SANZ , REPETTO LISBOA, MARIA GABRIELA

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XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations

2007 , REPETTO LISBOA, MARIA GABRIELA , ALONSO R PUGA , DELGADO BECERRA, OROZIMBA IRIS

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Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

2015 , GUILLERMO ROBERTO LAY SON RODRIGUEZ , Karena Espinoza , VIAL COX, MARIA CECILIA , Juan C. Rivera , María L. Guzmán , REPETTO LISBOA, MARIA GABRIELA

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