Second Report of the p.Leu874Pro Missense Variant in EPHB4 in a Family With Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM) Syndrome. Am J Med Genet A 2025 Mar;197(3):e63898
Date
10/21/2024Pubmed ID
39431828DOI
10.1002/ajmg.a.63898Scopus ID
2-s2.0-85207295481 (requires institutional sign-in at Scopus site) 1 CitationAbstract
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations of the skin. This disorder has been described as two distinct entities: CM-AVM1 and CM-AVM2. The diagnosis of these disorders has been associated with pathogenic variants in the RASA1 gene for RASA1-CM-AVM, formerly known as CM-AVM1, and, more recently, the EPHB4 genes for EPHB4-CM-AVM, formerly known as CM-AVM2. Affected patients with either type may also have arteriovenous malformations and fistulas, which can cause life-threatening bleeding, congestive heart failure, or neurologic consequences such as stroke. These syndromes are typically either sporadic or inherited in an autosomal dominant manner with variable expressivity. We report a case series of a father and three daughters who have clinically diagnosed EPHB4-CM-AVM syndrome who were found to have a variant of uncertain significance (VUS) in EPHB4 that has only been reported once prior.
Author List
Goeser LE, Lalor L, Chiu YE, Muriello MAuthors
Yvonne E. Chiu MD Vice Chair, Professor in the Dermatology department at Medical College of WisconsinLeah Lalor MD Associate Professor in the Dermatology department at Medical College of Wisconsin
Michael Muriello MD Associate Professor in the Pediatrics department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
Arteriovenous MalformationsCapillaries
Female
Humans
Male
Mutation, Missense
Pedigree
Phenotype
Port-Wine Stain
Receptor, EphB4
p120 GTPase Activating Protein
