Browsing by Author "Cubillos, María Paz"

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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.