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Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila

2024-08-12

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Loss of function mutations in the X-linked PIGA gene lead to PIGA-CDG, an ultra-rare congenital disorder of glycosylation (CDG), typically presenting with seizures, hypotonia, and neurodevelopmental delay. We identified two brothers (probands) with PIGA-CDG, presenting with epilepsy and mild developmental delay. Both probands carry PIGA S132C , an ultra-rare variant predicted to be damaging. Strikingly, the mat...

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Literature Corpus work: a417c169-ca08-5f68-8f55-c7b131fc32a9
DOI: 10.1101/2024.08.12.607501

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Identification of <i>CNTN2</i> as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in <i>Drosophila</i>

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