This website provides information on patients with variants in the CERT1, including clinical data, molecular data, management and research options.
The syndrome caused by pathogenic variants in the CERT1 is a rare autosomal dominant multisystem disorder characterized by intellectual disability, developmental delay, and systemic complications including failure to thrive, brain abnormalities, hypotonia, and skeletal abnormalities. It is caused by gain-of-function variants in CERT1.
Not all individuals with a variant in the CERT1 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 CERT1 gene.
Hiroaki Murakami, MD, PhD, Department of Pediatrics, Gifu Prefectural General Medical Center, Gifu, Japan, firstname.lastname@example.org
Kenji Kurosawa, MD, PhD, Division of Medical Genetics, Kanagawa Children's Medical Center, Kanagawa, Japan, email@example.com
Kentaro Hanada, PhD, Department of Quality Assurance, Radiation Safety, and Information System, National Institute of Infectious Diseases, Tokyo, Japan, firstname.lastname@example.org
Vincenzo Alessandro Gennarino, PhD, Department of Genetics and Development, Columbia University Medical Canter, New York, USA, email@example.com