Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

We report the phenotypic characterization of 13 patients (11 unrelated individuals and a pair of monozygotic twins) with missense mutations in PCGF2. All the mutations affected the same highly conserved proline in PCGF2 and were de novo, excepting maternal mosaicism in one.

https://www.cell.com/ajhg/fulltext/S0002-9297(18)30323-9?rss=yes

Source: The American Journal of Human Genetics - October 18, 2018 Category: Genetics & Stem Cells Authors: Peter D. Turnpenny, Michael J. Wright, Melissa Sloman, Richard Caswell, Anthony J. van Essen, Erica Gerkes, Rolph Pfundt, Susan M. White, Nava Shaul-Lotan, Lori Carpenter, G. Bradley Schaefer, Alan Fryer, A. Micheil Innes, Kirsten P. Forbes, Wendy K. Chun Tags: Report Source Type: research