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De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
Theresa Brunet1,2, Michael Zech1,2,3, Ulrich A Schatz1,2
1Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich, Germany.
American Journal of Medical Genetics. Part A
|October 4, 2025
Summary
PPFIA2 gene variants are linked to neurodevelopmental disorders. This study identifies PPFIA2 as a novel candidate gene, expanding the understanding of Liprin-α protein roles in brain development.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Liprin-α2 (encoded by PPFIA2) is a key synaptic scaffold protein involved in synapse assembly and maturation.
- Synaptic dysfunction is implicated in various neurodevelopmental disorders.
Purpose of the Study:
- To investigate the potential role of PPFIA2 in neurodevelopmental disorders.
- To establish a gene-disease association for PPFIA2.
Main Methods:
- Exome and genome sequencing identified de novo variants in PPFIA2 in affected individuals.
- Analysis of gnomAD gene constraint metrics.
- Screening of large cohort studies for additional cases.
Main Results:
- Heterozygous de novo variants in PPFIA2 were found in two unrelated individuals with neurodevelopmental disorders.
- Gene constraint metrics supported PPFIA2 as a candidate gene.
- Seven additional individuals with overlapping phenotypes and rare de novo PPFIA2 variants were identified.
Conclusions:
- PPFIA2 is a novel candidate gene associated with neurodevelopmental disorders.
- This finding establishes the second gene-disease association for a Liprin-α protein.
- Further research into PPFIA2's role in synaptic function and neurodevelopment is warranted.
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