Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center
We provide extensive case descriptions and attempt to infer the genotype-phenotype correlations; variants in all of the known genes associated with arteriovenous cerebral shunts were reported in VGAM patients, while cutaneous angiomas were specific to <i>RASA1</i> mutations. The genotypic and phenotypic descriptions of the affected individuals may thus have relevant implications in terms of better pathophysiological understanding, genotype-phenotype correlations, treatment strategies, and outcomes.
Authors
- Domenico Tortora (ORCID: https://orcid.org/0000-0002-5621-4046)
- Patrizia De Marco (ORCID: https://orcid.org/0000-0001-8498-3750)
- Marcello Scala (ORCID: https://orcid.org/0000-0003-2194-7239)
- Francesco Pasetti
- Valeria Capra (ORCID: https://orcid.org/0000-0002-3097-0388)
- Gianluca Piatelli (ORCID: https://orcid.org/0000-0003-3754-0898)
- Ferruccio Romano (ORCID: https://orcid.org/0009-0005-3933-0597)
- Federico Zara (ORCID: https://orcid.org/0000-0001-9744-5222)
- Mariasavina Severino (ORCID: https://orcid.org/0000-0003-4730-5322)
- Silvia Buratti (ORCID: https://orcid.org/0000-0003-4896-4071)
- Lucio Castellan (ORCID: https://orcid.org/0000-0002-5463-8785)
- Giulia Amico (ORCID: https://orcid.org/0000-0002-8249-2015)
- Marisa Mallamaci
- Marco Pavanello (ORCID: https://orcid.org/0000-0001-7312-0204)
- Francesca Faravelli
Institutions
- Istituto Giannina Gaslini (IT)
- Ospedale Policlinico San Martino (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Genoa (IT)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-03-28
- DOI
- https://doi.org/10.3389/fgene.2025.1430657
- Citations
- 2
- Primary Topic
- Vascular Malformations Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 2.78