This website provides information on patients with mutations in the KAT6B (Lysine acetyltransferase 6B) gene, including clinical data, molecular data, management and research options.

The syndromes caused by mutations in the KAT6B gene are called Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS). They are multisystem disorders characterized by some degree of global developmental delay / intellectual disability; hypotonia; feeding difficulties, genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips, and anomalies of the digits. Congenital heart defects, slow growth, hearing loss, and dental anomalies have been observed in individuals with either phenotype.

Not all individuals with a mutation in the KAT6B 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 KAT6B gene.

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

Gabrielle Lemire, MD. Children’s Hospital of Eastern Ontario, University of Ottawa, Ottowa, Canada, glemire@cheo.on.ca