EXOSC3

This website provides information on patients with alterations in the EXOSC3gene, including clinical data, molecular data, management and research options.

The Pontocerebellar hypoplasia type 1B (PCH1B) syndrome caused by a pathogenic variant in the EXOSC3gene is a multisystem disorder characterized by abnormal development of the cerebellum and pons, along with degeneration of spinal motor neurons. Additional features include developmental delay, spasticity, hypotonia, respiratory failure, oculomotor dysfunction, intellectual disability, and often early infant mortality. Not all individuals with an alteration in the EXOSC3gene have these features. Symptoms can vary widely in severity from mild forms with survival into early adulthood to more severe presentations in infancy.

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 EXOSC3gene.

Weiyi Mu, ScM, CGC, Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, United States, wmu2@jhmi.edu
Kristin Baranano, MD, PhD, Department of Neurology, Johns Hopkins School of Medicine, Baltimore, United States, kwb@jhmi.edu