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This research investigates the clinical features and genetic mutations associated with capillary malformation-arteriovenous malformation in Chinese families.

March 31, 2026Frontiers in Medicine0 citationsOpen Access

Chinese capillary malformation-arteriovenous malformation: clinical and genetic analysis of eight cases

YLYanyan LinUnion Hospital SDShuyan DongUnion Hospital CZChanghua ZhuFujian Provincial Cancer Hospital

Key Points

This research investigates the clinical features and genetic mutations associated with capillary malformation-arteriovenous malformation in Chinese families.
Analyzed clinical data from eight families with CM-AVM.
Employed whole-exome sequencing to identify pathogenic genes in probands.
Used Sanger sequencing to verify gene mutations in family members.
Applied homology modeling to predict protein structures affected by mutations.
Identified five EPHB4 variants and two RASA1 mutations across eight patients.
Novel variants included four EPHB4 mutations and one RASA1 mutation.
Observed varied mutation types: missense, frameshift, and nonsense mutations.

Abstract

Background Capillary malformation-arteriovenous malformation (CM-AVM) is an inherited autosomal dominant vascular disorder associated with RAS p21 protein activator (RASA1) or EPH receptor B4 (EPHB4) mutations. We aimed to investigate the clinical features of eight Chinese families with CM-AVM and the genetic characteristics of EPHB4 or RASA1 gene variants. Methods The clinical data of eight families with CM-AVM who were admitted to the Department of Dermatology, the Union Affiliated Hospital of Fujian Medical University from January 2022 to September 2023 were collected and analyzed. Whole-Exome Sequencing was used to detect the pathogenic gene in the probands, and Sanger sequencing was used to verify the gene mutation sites in family members. Homology modeling software was used to predict the three-dimensional structure of the protein and analyze the characteristics of gene mutations. Results Five EPHB4 gene variants and two RASA1 mutations were detected in eight patients. Five of these were novel variations: four EPHB4 (c. 2197GT, p. E733X; c. 2451₂460delGGAGAGGCCG, p. E818Tfs * 4; c. 1899₁900insTTGGCGAGGTGTGTCGGGGGCGG, p. K635Afs * 23; c. 2018AG, p. H673R) and one RASA1 (c. 1848TA, p. C616X). There were two missense mutations, two frameshift mutations and one non-sense mutation in EPHB4 mutation, and two non-sense mutations in RASA1 mutation. Conclusions The clinical characteristics of CM-AVM include multifocal capillary malformations (CMs), telangiectasia, and arteriovenous malformation (AVM) or arteriovenous fistulas (AVF). The novel mutations could expand the spectrum of CM-AVM associated with EPHB4 or RASA1 mutations.

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