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Cited by 294

The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.

RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Open access
Revencu, Nicole, Boon, Laurence M., Mendola, Antonella, Cordisco, Maria Rosa, Dubois, Josée, Clapuyt, Philippe, Hammer, Frank, Amor, David J., Irvine, Alan D., Baselga, Eulalia, Dompmartin, Anne, Syed, Samira, Martin-Santiago, Ana, Ades, Lesley, Collins, Felicity, Smith, Janine, Sandaradura, Sarah, Barrio, Victoria R., Burrows, Patricia E., Blei, Francine, Cozzolino, Mariarosaria, Brunetti-Pierri, Nicola, Vicente, Asuncion, Abramowicz, Marc, Désir, Julie, Vilain, Catheline, Chung, Wendy K., Wilson, Ashley, Gardiner, Carol A., Dwight, Yim, Lord, David J.E., Fishman, Leona, Cytrynbaum, Cheryl, Chamlin, Sarah, Ghali, Fred, Gilaberte, Yolanda, Joss, Shelagh, Boente, Maria del C., Léauté-Labrèze, Christine, Delrue, Marie-Ange, Bayliss, Susan, Martorell, Loreto, González-Enseñat, Maria-Antonia, Mazereeuw-Hautier, Juliette, O'Donnell, Brid, Bessis, Didier, Pyeritz, Reed E., Salhi, Aicha, Tan, Oon T., Wargon, Orli, Mulliken, John B., Vikkula, Miikka·2013·Human Mutation
DOI 10.1002/humu.22431
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Abstract

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up.

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Metadata

Authors
Revencu, N., Boon, L. M., Mendola, A., Cordisco, M. R., Dubois, J., Clapuyt, P., Hammer, F., Amor, D. J., Irvine, A. D., Baselga, E., Dompmartin, A., Syed, S., Martin-Santiago, A., Ades, L., Collins, F., Smith, J., Sandaradura, S., Barrio, V. R., Burrows, P. E., Blei, F., Cozzolino, M., Brunetti-Pierri, N., Vicente, A., Abramowicz, M., Désir, J., Vilain, C., Chung, W. K., Wilson, A., Gardiner, C. A., Dwight, Y., Lord, D. J. E., Fishman, L., Cytrynbaum, C., Chamlin, S., Ghali, F., Gilaberte, Y., Joss, S., Boente, M. D. C., Léauté-Labrèze, C., Delrue, M.-A., Bayliss, S., Martorell, L., González-Enseñat, M.-A., Mazereeuw-Hautier, J., O'Donnell, B., Bessis, D., Pyeritz, R. E., Salhi, A., Tan, O. T., Wargon, O., Mulliken, J. B., & Vikkula, M.
Venue
Human Mutation
Publisher
Hindawi Limited
Published
2013-10-10
Volume
34
Issue
12
Pages
1632-1641
ISSN
1059-7794 (ISSN-L)
DOI
10.1002/humu.22431
OpenAlex
W2155495006
Cited by
294
References
23
FWCI
14.97
Type
journal article
Language
en
Open access
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CoChat. (2026). Citation check: RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation. https://app.cochat.ai/papers/10.1002/humu.22431
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Revencu, N., Boon, L. M., Mendola, A., Cordisco, M. R., Dubois, J., Clapuyt, P., Hammer, F., Amor, D. J., Irvine, A. D., Baselga, E., Dompmartin, A., Syed, S., Martin-Santiago, A., Ades, L., Collins, F., Smith, J., Sandaradura, S., Barrio, V. R., Burrows, P. E., . . . Vikkula, M. (2013). RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation. Human Mutation. https://doi.org/10.1002/humu.22431

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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.