Calder Hamill, Stacy Goergen, Michael Fahey, Tony Roscioli, Anita Gorrie, Helen Curd, Nikki Gelfand
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The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A.
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.
期刊介绍：
Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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