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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)
Verlagsversion Forschungsdaten DOI PMC
Open Access Hybrid
Creative Commons Lizenzvertrag
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Ppfia2 ; Liprin‐α ; De Novo Variant ; Liquid–liquid Phase Separation ; Neurodevelopmental Disorder ; Presynaptic Active Zone ; α‐liprinopathy; Liprin-alpha
ISSN (print) / ISBN 1552-4825
e-ISSN 1552-4833
Zeitschrift American Journal of Medical Genetics, Part A
Quellenangaben Band: , Heft: , Seiten: , Artikelnummer: e64255 Supplement: ,
Verlag Wiley
Verlagsort 111 River St, Hoboken 07030-5774, Nj Usa
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Förderungen European Joint Programme on Rare Diseases
European Union-Next Generation EU
Charles University