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| DOI | 10.1002/AJMG.A.63711 | ||||
| Año | 2024 | ||||
| Tipo | artículo de investigación |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
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.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | Hume, Esteban | - |
Pontificia Universidad Católica de Chile - Chile
Facultad de Medicina - Chile |
| 2 | Cossio, Maria-Laura | - |
Pontificia Universidad Católica de Chile - Chile
|
| 2 | Cossio, María Laura | - |
Pontificia Universidad Católica de Chile - Chile
|
| 3 | VARGAS-INOCENTI, PAULA | Mujer |
Hospital Dr Sotero del Rio - Chile
Pontificia Universidad Católica de Chile - Chile Facultad de Medicina - Chile |
| 4 | Cubillos, Maria Paz | - |
Hospital Dr Sotero del Rio - Chile
|
| 5 | Maccioni, Andrea | - |
Hospital Dr Sotero del Rio - Chile
Pontificia Universidad Católica de Chile - Chile Facultad de Medicina - Chile |
| 6 | LAY-SON, GUILLERMO | Hombre |
Pontificia Universidad Católica de Chile - Chile
Hospital Dr Sotero del Rio - Chile Facultad de Medicina - Chile |