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- Title
Unilateral segmental presentation and a novel EPHB4 gene variant in capillary malformation–arteriovenous malformation type 2.
- Authors
Valente, C.; Caldeira, M. B.; Duarte, B.; Batista, J.; Cordeiro, A. I.
- Abstract
Capillary malformation–arteriovenous malformation is a rare autosomal dominant disorder associated with EPHB4 loss‐of‐function mutations. We report the unique presentation of a 6‐year‐old girl with multiple capillary malformations in a unilateral segmental distribution affecting the right hemiface, right upper chest, and right arm associated with overgrowth. Targeted next‐generation sequencing on a tissue sample revealed a novel heterozygotic variant in the EPHB4 gene (NM_004444.5 (EPHB4): c.715T>A, p.[Cys239Ser]). This case highlights a distinct presentation of CM‐AVM type 2 and showcases a new variant in EPHB4 not previously reported in the literature.
- Subjects
GENETIC variation; HUMAN abnormalities; CAPILLARIES; NUCLEOTIDE sequencing; ARTERIOVENOUS malformation; CEREBRAL arteriovenous malformations
- Publication
Pediatric Dermatology, 2024, Vol 41, Issue 2, p344
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/pde.15493