ArticlePrenatal diagnosis2025
The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A.
Article in Prenatal diagnosis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical and Molecular Spectrum ofGenes · 2025Pooled it
- The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A.Prenatal diagnosis · 2025Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPPP2R1A-related neurodevelopmental disorder (PPP2R1A-rNDD) is a rare condition marked by developmental delay, intellectual disability, and characteristic brain imaging findings that can be detected on prenatal neuroimaging. CASE PRESENTATION: We report three fetuses, all with a recurrent pathogenic PPP2R1A variant (c.544C〉T, p.Arg182Trp), identified at a single fetal diagnostic service over 12 months. The neuroradiological phenotype included corpus callosum dysgenesis, widening of the interhemispheric fissure and ventriculomegaly consistent with an aqueduct stenosis pattern. Two pregnancies ended in termination; one continued, with diagnosis confirmed postnatally. DISCUSSION: These cases broaden the prenatal neuroradiological spectrum of PPP2R1A-rNDD and, more specifically, a missense variant associated with the p.Arg182Trp change. These cases share reduced CC length (sometimes markedly) and widening of the interhemispheric fissure as common features.
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