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Article

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders.

American journal of medical genetics. Part A - 1 Feb 2026

Brunet Theresa, Zech Michael, Schatz Ulrich A, Adamovičová Miriam, Wagner Matias, Graf Elisabeth, Berutti Riccardo, Weigand Heike, Jech Robert, Meitinger Thomas, Winkelmann Juliane, Brugger Melanie

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41044885
DOI: 10.1002/ajmg.a.64255

Genes

PPFIA2
PPFIA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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