Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant

Parkes Weber syndrome is a vascular malformation overgrowth condition typically involving the legs. Its main features are diffuse arteriovenous fistulas and enlargement of the limb. The condition has been associated with pathogenic germline variants in RASA1 and EPHB4. We report two individuals with...

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Autores principales: Eng, Whitney, Sudduth, Christopher L., Konczyk, Dennis J., Smits, Patrick J., Taghinia, Amir H., Fishman, Steven J., Alomari, Ahmad, Adams, Denise M., Greene, Arin K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751413/
https://www.ncbi.nlm.nih.gov/pubmed/34607843
http://dx.doi.org/10.1101/mcs.a006118
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author Eng, Whitney
Sudduth, Christopher L.
Konczyk, Dennis J.
Smits, Patrick J.
Taghinia, Amir H.
Fishman, Steven J.
Alomari, Ahmad
Adams, Denise M.
Greene, Arin K.
author_facet Eng, Whitney
Sudduth, Christopher L.
Konczyk, Dennis J.
Smits, Patrick J.
Taghinia, Amir H.
Fishman, Steven J.
Alomari, Ahmad
Adams, Denise M.
Greene, Arin K.
author_sort Eng, Whitney
collection PubMed
description Parkes Weber syndrome is a vascular malformation overgrowth condition typically involving the legs. Its main features are diffuse arteriovenous fistulas and enlargement of the limb. The condition has been associated with pathogenic germline variants in RASA1 and EPHB4. We report two individuals with Parkes Weber syndrome of the leg and primary lymphedema containing a somatic KRAS variant (NM_004985.5:c.35G > A; p.Gly12Asp). KRAS variants, which cause somatic intracranial and extracranial arteriovenous malformations, also result in Parkes Weber syndrome with lymphatic malformations.
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spelling pubmed-87514132022-01-20 Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant Eng, Whitney Sudduth, Christopher L. Konczyk, Dennis J. Smits, Patrick J. Taghinia, Amir H. Fishman, Steven J. Alomari, Ahmad Adams, Denise M. Greene, Arin K. Cold Spring Harb Mol Case Stud Rapid Communication Parkes Weber syndrome is a vascular malformation overgrowth condition typically involving the legs. Its main features are diffuse arteriovenous fistulas and enlargement of the limb. The condition has been associated with pathogenic germline variants in RASA1 and EPHB4. We report two individuals with Parkes Weber syndrome of the leg and primary lymphedema containing a somatic KRAS variant (NM_004985.5:c.35G > A; p.Gly12Asp). KRAS variants, which cause somatic intracranial and extracranial arteriovenous malformations, also result in Parkes Weber syndrome with lymphatic malformations. Cold Spring Harbor Laboratory Press 2021-12 /pmc/articles/PMC8751413/ /pubmed/34607843 http://dx.doi.org/10.1101/mcs.a006118 Text en © 2021 Eng et al.; Published by Cold Spring Harbor Laboratory Press https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.
spellingShingle Rapid Communication
Eng, Whitney
Sudduth, Christopher L.
Konczyk, Dennis J.
Smits, Patrick J.
Taghinia, Amir H.
Fishman, Steven J.
Alomari, Ahmad
Adams, Denise M.
Greene, Arin K.
Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant
title Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant
title_full Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant
title_fullStr Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant
title_full_unstemmed Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant
title_short Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant
title_sort parkes weber syndrome with lymphedema caused by a somatic kras variant
topic Rapid Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751413/
https://www.ncbi.nlm.nih.gov/pubmed/34607843
http://dx.doi.org/10.1101/mcs.a006118
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