Premium
EPHB 4 Mutation Implicated in Capillary Malformation–Arteriovenous Malformation Syndrome: A Case Report
Author(s) -
Yu JiaDe,
Streicher Jenna L.,
Medne Livija,
Krantz Ian D.,
Yan Albert C.
Publication year - 2017
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13208
Subject(s) - missense mutation , medicine , arteriovenous malformation , mutation , cancer research , venous malformation , receptor tyrosine kinase , transmembrane protein , vascular malformation , pathology , receptor , genetics , biology , gene , surgery
Capillary malformation–arteriovenous malformation ( CM ‐ AVM ) syndrome, due to inactivating mutations in RASA 1 in 68% of cases, is characterized by the development of cutaneous capillary malformations and arteriovenous malformations or fistulas; no known genetic etiology has been identified in patients with CM ‐ AVM syndrome without RASA 1 mutations. We present the case of a child with RASA 1 ‐negative CM ‐ AVM syndrome with a de novo missense mutation in EPHB 4 , a transmembrane tyrosine kinase receptor essential for vasculogenesis. Inactivating the mutation in EPHB 4 has been shown to upregulate the mitogen‐activated protein kinase pathway and the mammalian target of rapamycin complex 1, possibly contributing to the development of vascular malformations.