EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.

Abstract

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome, due to inactivating mutations in RASA1 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 RASA1 mutations. We present the case of a child with RASA1-negative CM-AVM syndrome with a de novo missense mutation in EPHB4, a transmembrane tyrosine kinase receptor essential for vasculogenesis. Inactivating the mutation in EPHB4 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.

• Authors: JiaDe Yu, Jenna L Streicher, Livija Medne, Ian D Krantz, Albert C Yan
• Journal: Pediatric dermatology (Pediatr Dermatol) Vol. 34 Issue 5 Pg. e227-e230 (Sep 2017) ISSN: 1525-1470 [Electronic] United States
• PMID: 28730721 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2017 Wiley Periodicals, Inc.

Chemical References

• RASA1 protein, human
• p120 GTPase Activating Protein
• Receptor, EphB4

Topics

• Arteriovenous Malformations (genetics)
• Capillaries (abnormalities)
• Child
• Humans
• Male
• Mutation, Missense
• Port-Wine Stain (genetics)
• Receptor, EphB4 (genetics)
• p120 GTPase Activating Protein (genetics)