Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowth

N. Revencu; L. M. Boon; A. Dompmartin; P. Rieu; W. L. Busch; J. Dubois; F. Forzano; J. M. Van Hagen; S. Halbach; A. Kuechler; A. M.A. Lachmeijer; J. Lähde; L. Russell; K. O.J. Simola; J. B. Mulliken; M. Vikkula

doi:10.1159/000349919

Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowth

N. Revencu, L. M. Boon, A. Dompmartin, P. Rieu, W. L. Busch, J. Dubois, F. Forzano, J. M. Van Hagen, S. Halbach, A. Kuechler, A. M.A. Lachmeijer, J. Lähde, L. Russell, K. O.J. Simola, J. B. Mulliken, M. Vikkula

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal capillary malformations. This syndrome is characterised by a capillary blush on an extremity, arteriovenous microfistulas, and bony and soft tissue hypertrophy. The aim of this study was to test RASA1 in 2 disorders characterised by asymmetric limb enlargement and vascular malformations, namely Klippel-Trenaunay syndrome and regional capillary malformation with overgrowth. We did not identify any clear pathogenic change in these patients. Thus, besides clinical and radiological criteria, RASA1 testing constitutes an additional tool to differentiate Parkes Weber syndrome of capillary malformation- arteriovenous malformation (CM-AVM) from overlapping disorders.

Original language	English
Pages (from-to)	173-178
Number of pages	6
Journal	Molecular Syndromology
Volume	4
Issue number	4
DOIs	https://doi.org/10.1159/000349919
Publication status	Published - Apr 2013
Externally published	Yes

Keywords

Capillary malformation
Capillary malformation-arteriovenous malformation
Klippel-Trenaunay syndrome
Overgrowth
p120RASGAP
Parkes Weber syndrome
RASA1

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Revencu, N., Boon, L. M., Dompmartin, A., Rieu, P., Busch, W. L., Dubois, J., Forzano, F., Van Hagen, J. M., Halbach, S., Kuechler, A., Lachmeijer, A. M. A., Lähde, J., Russell, L., Simola, K. O. J., Mulliken, J. B., & Vikkula, M. (2013). Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowth. Molecular Syndromology, 4(4), 173-178. https://doi.org/10.1159/000349919

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title = "Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowth",

abstract = "The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal capillary malformations. This syndrome is characterised by a capillary blush on an extremity, arteriovenous microfistulas, and bony and soft tissue hypertrophy. The aim of this study was to test RASA1 in 2 disorders characterised by asymmetric limb enlargement and vascular malformations, namely Klippel-Trenaunay syndrome and regional capillary malformation with overgrowth. We did not identify any clear pathogenic change in these patients. Thus, besides clinical and radiological criteria, RASA1 testing constitutes an additional tool to differentiate Parkes Weber syndrome of capillary malformation- arteriovenous malformation (CM-AVM) from overlapping disorders.",

keywords = "Capillary malformation, Capillary malformation-arteriovenous malformation, Klippel-Trenaunay syndrome, Overgrowth, p120RASGAP, Parkes Weber syndrome, RASA1",

author = "N. Revencu and Boon, {L. M.} and A. Dompmartin and P. Rieu and Busch, {W. L.} and J. Dubois and F. Forzano and {Van Hagen}, {J. M.} and S. Halbach and A. Kuechler and Lachmeijer, {A. M.A.} and J. L{\"a}hde and L. Russell and Simola, {K. O.J.} and Mulliken, {J. B.} and M. Vikkula",

year = "2013",

month = apr,

doi = "10.1159/000349919",

language = "English",

volume = "4",

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journal = "Molecular Syndromology",

issn = "1661-8769",

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Revencu, N, Boon, LM, Dompmartin, A, Rieu, P, Busch, WL, Dubois, J, Forzano, F, Van Hagen, JM, Halbach, S, Kuechler, A, Lachmeijer, AMA, Lähde, J, Russell, L, Simola, KOJ, Mulliken, JB & Vikkula, M 2013, 'Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowth', Molecular Syndromology, vol. 4, no. 4, pp. 173-178. https://doi.org/10.1159/000349919

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AU - Revencu, N.

AU - Boon, L. M.

AU - Dompmartin, A.

AU - Rieu, P.

AU - Busch, W. L.

AU - Dubois, J.

AU - Forzano, F.

AU - Van Hagen, J. M.

AU - Halbach, S.

AU - Kuechler, A.

AU - Lachmeijer, A. M.A.

AU - Lähde, J.

AU - Russell, L.

AU - Simola, K. O.J.

AU - Mulliken, J. B.

AU - Vikkula, M.

PY - 2013/4

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N2 - The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal capillary malformations. This syndrome is characterised by a capillary blush on an extremity, arteriovenous microfistulas, and bony and soft tissue hypertrophy. The aim of this study was to test RASA1 in 2 disorders characterised by asymmetric limb enlargement and vascular malformations, namely Klippel-Trenaunay syndrome and regional capillary malformation with overgrowth. We did not identify any clear pathogenic change in these patients. Thus, besides clinical and radiological criteria, RASA1 testing constitutes an additional tool to differentiate Parkes Weber syndrome of capillary malformation- arteriovenous malformation (CM-AVM) from overlapping disorders.

AB - The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal capillary malformations. This syndrome is characterised by a capillary blush on an extremity, arteriovenous microfistulas, and bony and soft tissue hypertrophy. The aim of this study was to test RASA1 in 2 disorders characterised by asymmetric limb enlargement and vascular malformations, namely Klippel-Trenaunay syndrome and regional capillary malformation with overgrowth. We did not identify any clear pathogenic change in these patients. Thus, besides clinical and radiological criteria, RASA1 testing constitutes an additional tool to differentiate Parkes Weber syndrome of capillary malformation- arteriovenous malformation (CM-AVM) from overlapping disorders.

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KW - Capillary malformation-arteriovenous malformation

KW - Klippel-Trenaunay syndrome

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KW - p120RASGAP

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JO - Molecular Syndromology

JF - Molecular Syndromology

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ER -

Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowth

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Keywords

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