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De novo variants in PPFIA2 in individuals with neurodevelopmental disorders.
Am. J. Med. Genet. A:e64255 (2025)
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
ISSN (print) / ISBN
1552-4825
e-ISSN
1552-4833
Quellenangaben
Article Number: e64255
Publisher
Wiley
Publishing Place
111 River St, Hoboken 07030-5774, Nj Usa
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
Grants
European Joint Programme on Rare Diseases
European Union-Next Generation EU
Charles University
European Union-Next Generation EU
Charles University