This website provides information on patients with mutations in the PPP1CB gene, including clinical data, molecular data, management and research options.

PPP1CB, located at 2p23.2, encodes a catalytic subunit of protein phosphatase 1 (PP1), a serine/threonine-specific protein phosphatase involved in the dephosphorylation of a variety of proteins.  The 3-prime noncoding region is approximately 90% conserved between humans and rodents, suggesting functional importance for this region.
PP1 has 3 catalytic subunits, designated alpha (OMIM:176875), beta (OMIM:600590), and gamma (OMIM:176914).

The syndrome caused by mutations in the PPP1CB gene is a multisystem disorder inherited in an autosomal dominant manner, characterized by: short stature, macrocephaly (relative or absolute)
Craniosynostosis (rare), dysmorphic features (low-set and posteriorly angulated ears, hypertelorism, down-slanting palpebral fissures, high-arched palate, short neck, webbed neck), variable congenital heart manifestations, pectus deformities, pigmentary changes including freckling, Cafe-au-lait spots and abnormal hair. Most reported patients present with developmental delay.

Not all individuals with a mutation in the PPP1CB 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 PPP1CB gene.

Regina M. Zambrano, MD, Louisiana State University Health Science Center, New Orleans, Louisiana, USA, rzambr@lsuhsc.edu

Michael Marble, MD, University of New Mexico Health Science Center, Albuquerque, New Mexico, USA, MMarble@salud.unm.edu

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