Targeted gene(s)/phenotype under study
CTNNA3 gene (OMIM 607667)
CTNNA3 gene is located on long arm of chromosome 10 and it encodes a protein that belong to the vinculin/alpha-catenin family. This protein plays a role in cell-cell adhesion. Microdeletions in this gene may are associated with arrhythmogenic right ventricular dysplasia 13, autism spectrum disorder and multiple fetal anomalies.
The echography controls in a pregnant were suggestive for duodenal stenosis, a genetic analysis was performed and it identified a microdeletion in CTNNA3.
Microdeletions in CTNNA3 gene are poorly reported in the literature. Therefore, the aim of this study is to collect clinical data on additional patients with a CTNNA3 microdeletion and to better describe the clinical features of this specific mutation.
Dr Alessandra Ferrarini
Service of Medical Genetics,
Italian Hospital of Lugano and University of Lugano,
6900 Lugano, Switzerland (CH)
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples : No
- Resampling of patients : No
- Linked to a translational/basic research project: No