Targeted gene(s)/phenotype under study :

• Gene: CTNNA3 gene (OMIM 607667)

Abstract :

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.

Coordinating clinicians /researchers: 

• Dr Alessandra Ferrarini

Institution :

Service of Medical Genetics,

Italian Hospital of Lugano and University of Lugano,

6900 Lugano, Switzerland (CH)

Contact : 

• alessandra.ferrarini@eoc.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? Yes