The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A
Paediatrics
The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A
Paediatrics

The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A

Prenat Diagn. 2025 Jul 6. doi: 10.1002/pd.6851. Online ahead of print.

ABSTRACT

BACKGROUND: PPP2R1A-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.

PMID:40619598 | DOI:10.1002/pd.6851