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

2022-02-03

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<h4>ABSTRACT</h4> 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-...

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Literature Corpus work: a3558a25-78fe-53c3-86e8-b5e5878e6a88
DOI: 10.1101/2022.02.02.478908

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Functional analysis of a novel <i>de novo</i> variant in <i>PPP5C</i> associated with microcephaly, seizures, and developmental delay

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