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Cited by 435

The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

Open access
Revencu, Nicole, Boon, Laurence M., Mulliken, John B., Enjolras, Odile, Cordisco, Maria Rosa, Burrows, Patricia E., Clapuyt, Philippe, Hammer, Frank, Dubois, Josée, Baselga, Eulalia, Brancati, Francesco, Carder, Robin, Quintal, José Miguel Ceballos, Dallapiccola, Bruno, Fischer, Gayle, Frieden, Ilona J., Garzon, Maria, Harper, John, Johnson-Patel, Jennifer, Labrèze, Christine, Martorell, Loreto, Paltiel, Harriet J., Pohl, Annette, Prendiville, Julie, Quere, Isabelle, Siegel, Dawn H., Valente, Enza Maria, Van Hagen, Annet, Van Hest, Liselot, Vaux, Keith K., Vicente, Asuncion, Weibel, Lisa, Chitayat, David, Vikkula, Miikka·2008·Human Mutation
DOI 10.1002/humu.20746
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Abstract

Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary malformations (CMs), which represent the hallmark of the disorder. Importantly, one-third had fast-flow vascular lesions. Among them, we observed severe intracranial AVMs, including vein of Galen aneurysmal malformation, which were symptomatic at birth or during infancy, extracranial AVM of the face and extremities, and Parkes Weber syndrome (PKWS), previously considered sporadic and nongenetic. These fast-flow lesions can be differed from the other two genetic AVMs seen in hereditary hemorrhagic telangiectasia (HHT) and in phosphatase and tensin homolog (PTEN) hamartomatous tumor syndrome. Finally, some CM-AVM patients had neural tumors reminiscent of neurofibromatosis type 1 or 2. This is the first extensive study on the phenotypes associated with RASA1 mutations, and unravels their wide heterogeneity.

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Metadata

Authors
Revencu, N., Boon, L. M., Mulliken, J. B., Enjolras, O., Cordisco, M. R., Burrows, P. E., Clapuyt, P., Hammer, F., Dubois, J., Baselga, E., Brancati, F., Carder, R., Quintal, J. M. C., Dallapiccola, B., Fischer, G., Frieden, I. J., Garzon, M., Harper, J., Johnson-Patel, J., Labrèze, C., Martorell, L., Paltiel, H. J., Pohl, A., Prendiville, J., Quere, I., Siegel, D. H., Valente, E. M., Van Hagen, A., Van Hest, L., Vaux, K. K., Vicente, A., Weibel, L., Chitayat, D., & Vikkula, M.
Venue
Human Mutation
Publisher
Wiley
Published
2008
Volume
29
Issue
7
Pages
959-965
ISSN
  • 1059-7794 (ISSN-L)
  • 1098-1004
DOI
10.1002/humu.20746
OpenAlex
W2164903526
Cited by
435
References
15
FWCI
20.36
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations. https://app.cochat.ai/papers/10.1002/humu.20746
The paper
Revencu, N., Boon, L. M., Mulliken, J. B., Enjolras, O., Cordisco, M. R., Burrows, P. E., Clapuyt, P., Hammer, F., Dubois, J., Baselga, E., Brancati, F., Carder, R., Quintal, J. M. C., Dallapiccola, B., Fischer, G., Frieden, I. J., Garzon, M., Harper, J., Johnson-Patel, J., . . . Vikkula, M. (2008). Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations. Human Mutation. https://doi.org/10.1002/humu.20746

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.