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Article

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

Molecular genetics and metabolism - 1 May 2022

Fielder Sara M, Rosenfeld Jill A, Burrage Lindsay C, Emrick Lisa, Lalani Seema, Attali Ruben, Bembenek Joshua N, Hoang Hieu, Baldridge Dustin, Silverman Gary A, Schedl Tim, Pak Stephen C

Abstract excerpt

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-function variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35361529
DOI: 10.1016/j.ymgme.2022.03.007
PMCID: PMC10200280

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