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Brunet, T.* ; Zech, M. ; Schatz, U.A.* ; Adamovičová, M.* ; Wagner, M. ; Graf, E.* ; Berutti, R.* ; Weigand, H.* ; Jech, R.* ; Meitinger, T.* ; Winkelmann, J. ; Brugger, M.*

De novo variants in PPFIA2 in individuals with neurodevelopmental disorders.

Am. J. Med. Genet. A:e64255 (2025)
Publ. Version/Full Text Research data DOI PMC
Open Access Hybrid
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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 type Article: Journal article
Document type Scientific Article
Keywords Ppfia2 ; Liprin‐α ; De Novo Variant ; Liquid–liquid Phase Separation ; Neurodevelopmental Disorder ; Presynaptic Active Zone ; α‐liprinopathy; Liprin-alpha
Language english
Publication Year 2025
HGF-reported in Year 2025
ISSN (print) / ISBN 0148-7299
e-ISSN 1096-8628
Journal American Journal of Medical Genetics, Part A
Quellenangaben Volume: , Issue: , Pages: , Article Number: e64255 Supplement: ,
Publisher Wiley
Publishing Place 111 River St, Hoboken 07030-5774, Nj Usa
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
POF-Topic(s) 30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503200-001
Grants European Joint Programme on Rare Diseases
European Union-Next Generation EU
Charles University
DOI 10.1002/ajmg.a.64255
WOS ID 001586385700001
Scopus ID 105017655680
PubMed ID 41044885
Erfassungsdatum 2025-10-27
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