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Mol Genet Metab2022;136(1):65-73.May 1, 2022Case Reports

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.

Sara M Fielder1, Jill A Rosenfeld2, Lindsay C Burrage3, Lisa Emrick3, Seema Lalani3, Ruben Attali4, Joshua N Bembenek5, Hieu Hoang1, Dustin Baldridge1, Gary A Silverman1, , Tim Schedl6, Stephen C Pak7
1Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.
2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
4Genomic Research Department, Emedgene Technologies, 6744332 Tel Aviv, Israel.
5Department of Obstetrics and Gynecology, C.S. Mott Center for Human Growth and Development, Wayne State University School of Medicine, Detroit, MI 48201, USA.
6Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.
7Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA. Electronic address: stephen.pak@wustl.edu.
PubMed PMC DOI PDF

Abstract

We describe a proband evaluated through the Undiagnosed Diseases Network (UDN) who presented with microcephaly, developmental delay, and refractory epilepsy with a de novo p.Ala47Thr missense variant in the protein phosphatase gene, PPP5C. This gene has not previously been associated with a Mendelian disease, and based on the population database, gnomAD, the gene has a low tolerance for loss-of-fu…

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