<i>De Novo</i> Variants in <scp> <i>PPFIA2</i> </scp> in Individuals With Neurodevelopmental Disorders

Liprin-α2, encoded by PPFIA2, belongs to the family of Liprin-α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder. The hypothesis of PPFIA2 as a novel candidate gene for a neurodevelopmental disorder is supported by the gnomAD gene constraint metrics and further strengthened by our identification of seven additional individuals in large cohort studies carrying rare de novo variants and presenting with overlapping phenotype. In summary, we provide evidence for the second gene-disease association of a Liprin-α protein beyond PPFIA3.

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Publication Details

Journal
American Journal of Medical Genetics Part A
Published
2025-10-03
DOI
https://doi.org/10.1002/ajmg.a.64255
Primary Topic
Cellular transport and secretion
Type
article
Field-Weighted Citation Impact
0.00

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article

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

Melanie Brügger, Riccardo Berutti, Michael Zech, Thomas Meitinger et al.
American Journal of Medical Genetics Part A
Cellular transport and secretion
article

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

Melanie Brügger, Riccardo Berutti, Michael Zech, Thomas Meitinger, Theresa Brunet, Miriam Adamovičová, Juliane Winkelmann, Elisabeth Graf, Ulrich A. Schatz, Robert Jech, Heike Weigand, Matias Wagner
article en

Abstract

Liprin-α2, encoded by PPFIA2, belongs to the family of Liprin-α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder. The hypothesis of PPFIA2 as a novel candidate gene for a neurodevelopmental disorder is supported by the gnomAD gene constraint metrics and further strengthened by our identification of seven additional individuals in large cohort studies carrying rare de novo variants and presenting with overlapping phenotype. In summary, we provide evidence for the second gene-disease association of a Liprin-α protein beyond PPFIA3.

American Journal of Medical Genetics Part AVol. 200(2)
Charles University (CZ), Center for Advanced Studies Research and Development in Sardinia (IT), TUM Klinikum (DE), Helmholtz Zentrum München (DE), Centre for Biomedical Network Research on Rare Diseases (ES), Munich Cluster for Systems Neurology (DE), Thomayer University Hospital (CZ), General University Hospital in Prague (CZ), Technical University of Munich (DE), Ludwig-Maximilians-Universität München (DE)
Univerzita Karlova v Praze, European Commission, Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung
Openalex Percentile: Top 71%
Cellular transport and secretion
DOIOpen Access PDFOpenAlex
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