This website provides information on patients with variants in PPP3CA, including clinical data, molecular data, management and research options.

PPP3CA-associated neurodevelopmental disorders are diverse in both clinical features and disease-causing mechanisms. Loss-of-Function (LoF) variants cause epileptic encephalopathy, while Gain-of-Function (GoF) variants cause arthrogryposis and multisystem congenital abnormalities. In addition, truncating variants are associated with severe intractable early onset epilepsy. The number of patients is very small and therefore more patient data is needed to examine the phenotype of patients with a pathogenic or likely pathogenic PPP3CA variant in more detail and to identify the consequences of these variants with a higher precision.

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 variants in PPP3CA.

Weimin Bi, PhD, FACMG, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA, wbi@bcm.edu

John G. Pappas, MD, Department of Pediatrics, Clinical Genetic Services, NYU School of Medicine, New York, USA, John.Pappas@nyulangone.org

Saadet Mercimek-Andrews, MD, PhD, FCCMG, Department of Medical Genetics, College of Health Sciences, University of Alberta, Edmonton, Canada, saadet@ualberta.ca

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