Year: 2025
Type: article
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.
DOI: 10.1002/ajmg.a.64255
Institutions: TUM Klinikum, Institut für Humangenetik, Technical University of Munich, Helmholtz Munich, Thomayer University Hospital, Ludwig-Maximilians-Universität München, Center for Advanced Studies Research and Development in Sardinia, Charles University, General University Hospital in Prague, Munich Cluster for Systems Neurology
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $4,710
OpenAlex ID: W4414822975