A Novel Mutation of TGFB2 Gene Responsible of Loeys-Dietz 4 Syndrome
The pedigree analysis highlighted the high clinical variability of LDS signs even within the same family. In addition, <i>TGFB2</i> mutations which do not always lead to vascular phenotype and skeletal signs can be prevalent. We emphasize the relevance of genetic counseling and molecular analysis to identify genetic diseases subtending sudden deaths and to distinguishing heritable connective tissue disorders with phenotypic overlap. Genetic testing can be used to guide clinical management and provide valuable prognostic information.
Authors
- Silvio Garofalo (ORCID: https://orcid.org/0000-0001-7460-3179)
- Autilia Tommasina Buonagura (ORCID: https://orcid.org/0000-0002-8004-1341)
- Michele Pinelli (ORCID: https://orcid.org/0000-0002-5927-1185)
- Erika Di Zazzo (ORCID: https://orcid.org/0000-0001-7621-488X)
- Veronica Palladino
Institutions
- University of Molise (IT)
- Ospedale Antonio Cardarelli (IT)
- Fatebenefratelli Hospital (IT)
- Federico II University Hospital (IT)
- University of Naples Federico II (IT)
Publication Details
- Journal
- International Medical Case Reports Journal
- Published
- 2025-10-01
- DOI
- https://doi.org/10.2147/imcrj.s544549
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00