This website provides information on patients with mutations in the Transformation/transcription domain-associated protein (TRRAP) gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the TRRAP gene is called Developmental delay with or without dysmorphic facies and autism (DEDDFA) and is a multisystem disorder characterized by two distinct clinical spectra. The first associated with malformations of the brain, heart, kidneys, and genitourinary system and intellectual disability. The second spectrum associated with autism spectrum disorder (ASD), epilepsy and intellectual disability. Not all individuals with a mutation in the TRRAP gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the TRRAP gene.

Campeau Philippe, MD, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Canada, p.campeau@umontreal.ca

Coralie Michaud, MD, University of Montreal, Montreal, Canada, coralie.michaud@umontreal.ca

Dr Sébastien Küry, DVM, PhD, Centre Hospitalier Universitaire de Nantes, Nantes, France, Sebastien.KURY@chu-nantes.fr

Benjamin Cogné, PharmD, PhD, Centre Hospitalier Universitaire de Nantes, Nantes, France, Benjamin.COGNE@chu-nantes.fr