Article
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Human genetics - 1 Dec 2016
Ma Lijiang, Bayram Yavuz, McLaughlin Heather M, Cho Megan T, Krokosky Alyson, Turner Clesson E, Lindstrom Kristin, Bupp Caleb P, Mayberry Katey, Mu Weiyi, Bodurtha Joann, Weinstein Veronique, Zadeh Neda, Alcaraz Wendy, Powis Zöe, Shao Yunru, Scott Daryl A, Lewis Andrea M, White Janson J, Jhangiani Shalani N, Gulec Elif Yilmaz, Lalani Seema R, Lupski James R, Retterer Kyle, Schnur Rhonda E, Wentzensen Ingrid M, Bale Sherri, Chung Wendy K
Abstract excerpt
Intellectual disabilities are genetically heterogeneous and can be associated with congenital anomalies. Using whole-exome sequencing (WES), we identified five different de novo missense variants in the protein phosphatase-1 catalytic subunit beta (PPP1CB) gene in eight unrelated individuals who share an overlapping phenotype of dysmorphic features, macrocephaly, developmental delay or intellectual disability...
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