Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant
W Eng, CL Sudduth, DJ Konczyk… - Molecular …, 2021 - molecularcasestudies.cshlp.org
W Eng, CL Sudduth, DJ Konczyk, PJ Smits, AH Taghinia, SJ Fishman, A Alomari, DM Adams…
Molecular Case Studies, 2021•molecularcasestudies.cshlp.orgParkes 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 …
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 …
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.
molecularcasestudies.cshlp.org