This website provides information on patients with mutations in the SHANK1 gene, including clinical data, molecular data, management and research options.

Mutation in SHANK1 are associated with autism spectrum disorders (ASD). There are few patients reported but all had IQ in the normal range and good verbal ability without significant language delay. Sex differences might modulate the phenotype since females carrying an inherited SHANK1 deletion exhibited anxiety and shyness, but did not fulfill criteria for ASD. Recently loss of function SHANK1 mutations were observed in patients with bipolar disorders.

Not all individuals with a mutation in the SHANK1 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 SHANK1 gene.

Thomas Bourgeron, PI, Institut Pasteur, Paris, France, thomas.bourgeron@pasteur.fr

Richard Delorme, MD, PhD, APHP, Paris, France, richard.delorme@aphp.fr

Gudrun A. Rappold, MD, Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany, gudrun_rappold@med.uni-heidelberg.de

Simone Berkel, MD, Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany, Simone.Berkel@med.uni-heidelberg.de