This website provides information on patients with mutations in the PUM1 gene, including clinical data, molecular data, and management and research options.
PUM1 plays an important role in the development and function of neurons (brain cells). When the PUM1 gene does not function properly, due to a change in its DNA sequence (known as a mutation or pathogenic variant), it can lead to a range of neuropsychiatric difficulties, depending on the severity of the mutation.
Currently two distinct PUM1-related disorders are recognised. The more severe disease is an early-onset syndrome called Pumilio1-associated developmental disability, ataxia, and seizures (PADDAS). The features of this disease can vary from one individual to the next.
A milder PUM1 mutation has been found in one family with a slowly progressive, adult-onset ataxia. This disease is called Pumilio1-related cerebellar ataxia, or PRCA.
This website was created to share and collect information about clinical and research projects on PUM1 and to gather more knowledge about patients with mutations in PUM1 with the goal of developing better treatments.
A/Professor Vincenzo Alessandro Gennarino, PhD, Department of Genetics and Development, Columbia University Medical Canter, New York, USA, firstname.lastname@example.org
Dr (Elizabeth) Emma Palmer (Clinical Geneticist), MD, Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Sydney, Australia, Elizabeth.email@example.com
A/Professor Jimmy Lloyd Holder, Jr., MD (Pediatric Neurology), Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA, firstname.lastname@example.org