Article
Gardner syndrome in a Tunisian family: Identification of a rare APC mutation through targeted NGS.
Gene - 30 Jan 2025
Abdelmaksoud-Dammak Rania, Ammous-Boukhris Nihel, Guidara Souhir, Kamoun Hassen, Gdoura Hela, Barkia Baha, Boudabbous Mouna, Tahri Nabil, Ameur Hazem Ben, Boujelbene Salah, Gargouri Raja Mokdad
Abstract excerpt
Gardner syndrome (GS) is a subtype of familial adenomatous polyposis (FAP) characterized by colorectal polyps, multiple osteomas, soft tissue tumors, and specific oral manifestations, such as jaw osteomas. GS is caused by mutations in the APC gene, resulting in a nonfunctional protein. This study reports a comprehensive clinical evaluation and genetic analysis of a Tunisian family affected by GS. Targeted exome...
Topics
- Humans
- Gardner Syndrome
- Adenomatous Polyposis Coli Protein
- Male
- Female
- Tunisia
- Pedigree
- Mutation
- Adult
- High-Throughput Nucleotide Sequencing
- Child