Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in <i>SMAD4</i>
We identified biallelic loss of function of <i>SMAD4</i> in a craniofacial AVM, evidence that <i>SMAD4</i> also follows the two-hit mutation mechanism of HHT-associated vascular malformation pathogenesis.
Authors
- James W. Roberts (ORCID: https://orcid.org/0000-0001-6204-5325)
- Andrew K. Ressler (ORCID: https://orcid.org/0000-0001-5481-2774)
- Cassi Friday (ORCID: https://orcid.org/0000-0001-9712-316X)
- Kara K. Prickett (ORCID: https://orcid.org/0000-0002-0786-6056)
- Douglas A. Marchuk (ORCID: https://orcid.org/0000-0002-3110-6671)
- James R. Gossage (ORCID: https://orcid.org/0000-0001-5019-2483)
- Evon DeBose-Scarlett (ORCID: https://orcid.org/0000-0002-0488-0717)
Institutions
- Emory University (US)
- Augusta University (US)
- Duke Medical Center (US)
- Children's Healthcare of Atlanta (US)
- Duke University Hospital (US)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-02-12
- DOI
- https://doi.org/10.1136/jmg-2024-110569
- Citations
- 9
- Primary Topic
- Vascular Anomalies and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 14.63
Funders
- Fondation Leducq
- National Institutes of Health