Browsing by Author "Lay-Son Rodríguez, Guillermo Roberto"

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    Another face of RASA1: report of familial germline variant in RASA1 with dysmorphic features
    (WILEY, 2024) Hume Venegas, Esteban; Cossio Traverso, María Laura; Vargas Innocenti, Paula Andrea; Cubillos, María Paz; Maccioni Romero, Andrea Ana; Lay-Son Rodríguez, Guillermo Roberto
    RASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS-MAPK pathway. RASA1 mutations are the cause of an autosomal dominant disorder called capillary malformation-arteriovenous malformation type 1 (CM-AVM1). Unlike other RASopathies, facial dysmorphism has not been described in these patients. We phenotypically delineated a large family of individuals with multifocal fast-flow capillary malformations, severe lymphatic anomalies of perinatal onset, and dysmorphic features not previously described. Sequencing studies were performed on probands and related family members, confirming the segregation of dysmorphic features in affected members of a novel heterozygous variant in RASA1 (NM_002890.3:c.2366G>A, p.(Arg789Gln)). In this work, we broaden the phenotypic spectrum of CM-AVM type 1 and propose a new RASA1 variant as likely pathogenic.
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    Diagnóstico prenatal de malformaciones congénitas y alteraciones cromosómicas : resultado de la experiencia CIMAF - Hospital Dr. Sótero Del Río
    (2020) Vargas Innocenti, Paula Andrea; Mergudich, T.; Martinovic, C.; Córdova, V.; Valdés, R.; Luna, D.; Prieto, J. F.; Silva Silva, Juan Pablo; Silva, K.; Kusanovic, Juan Pedro; Lay-Son Rodríguez, Guillermo Roberto
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    HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST1H1E syndrome phenotype in 30 individuals
    (2019) Burkardt, D.D.; Zachariou, A.; Loveday, C.; Allen, C.L.; Amor, D.J.; Ardissone, A.; Banka, S.; Bourgois, A.; Coubes, C.; Lay-Son Rodríguez, Guillermo Roberto
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    Skeletal dysplasias in Latin America
    (2020) Cavalcanti, Denise P.; Fano, Virginia; Mellado Sagredo, Cecilia Ximena Del Carmen; Lacarrubba‐Flores, María Dora; Silveira, Cynthia; Silveira, Karina C.; Pino, Mariana del; Moresco, Angélica; Caino, Silvia; Ramos Mejía, Rosario; García B., Cristián; Lay-Son Rodríguez, Guillermo Roberto; Ferreira, Carlos F.
    Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources available in Latin America, including three specific countries (Brazil, Argentina, and Chile), that have established multidisciplinary clinics for the care of these patients. From the epidemiological point of view, the SD prevalence of 3.2 per 10,000 births from nine South American countries included in the ECLAMC network represents the most accurate estimate not just in Latin America, but worldwide. In Brazil, there are currently five groups focused on SD. The data from one of these groups including the website www.ocd.med.br, created to assist in the diagnosis of SD, are highlighted showing that telemedicine for this purpose represents a good strategy for the region. The experience of more than 30 years of the SD multidisciplinary clinic in an Argentinian Hospital is presented, evidencing a solid experience mainly in the follow-up of the most frequent SD, especially those belonging the FGFR3 group and OI. In Chile, a group with 20 years of experience presents its work with geneticists and pediatricians, focusing on diagnostic purposes and clinical management. Altogether, although SD health-care and research activities in Latin America are in their early stages, the experience in these three countries seems promising and stimulating for the region as a whole.