Another face of RASA1: report of familial germline variant in RASA1 with dysmorphic features

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dc.catalogadoryvc
dc.contributor.authorHume Venegas, Esteban
dc.contributor.authorCossio Traverso, María Laura
dc.contributor.authorVargas Innocenti, Paula Andrea
dc.contributor.authorCubillos, María Paz
dc.contributor.authorMaccioni Romero, Andrea Ana
dc.contributor.authorLay-Son Rodríguez, Guillermo Roberto
dc.date.accessioned2024-07-18T17:44:28Z
dc.date.available2024-07-18T17:44:28Z
dc.date.issued2024
dc.description.abstractRASopathies 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.
dc.fechaingreso.objetodigital2024-07-18
dc.format.extent8 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1002/ajmg.a.63711
dc.identifier.eissn1552-4833
dc.identifier.issn1552-4825
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.63711
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/87121
dc.identifier.wosidWOS:001256188600001
dc.information.autorucEscuela de Medicina; Hume Venegas, Esteban; S/I; 1260368
dc.information.autorucEscuela de Medicina; Cossio Traverso, María Laura; S/I; 16897
dc.information.autorucEscuela de Medicina; Vargas Innocenti, Paula Andrea; 0000-0003-1919-5322; 15597
dc.information.autorucEscuela de Medicina; Maccioni Romero, Andrea Ana; S/I; 218717
dc.information.autorucEscuela de Medicina; Lay-son Rodríguez, Guillermo Roberto; 0000-0001-9933-1253; 1081531
dc.language.isoen
dc.nota.accesocontenido parcial
dc.publisherWILEY
dc.revistaAmerican Journal of Medical Genetics
dc.rightsacceso restringido
dc.subjectCapillary malformation
dc.subjectRASA1
dc.subjectRASopathies
dc.subjectArteriovenous malformation syndrome
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleAnother face of RASA1: report of familial germline variant in RASA1 with dysmorphic features
dc.typeartículo
sipa.codpersvinculados1260368
sipa.codpersvinculados16897
sipa.codpersvinculados15597
sipa.codpersvinculados218717
sipa.codpersvinculados1081531
sipa.trazabilidadWoS;2024-07-13
sipa.trazabilidadORCID;2024-07-14
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