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Article

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

American journal of medical genetics. Part A - 1 Jun 2025

Werren Elizabeth A, Kalsner Louisa, Ewald Jessica M, Peracchio Michael, King Cameron, Vats Purva, Audano Peter A, Robinson Peter N, Adams Mark D, Kelly Melissa A, Matson Adam P

Abstract excerpt

P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel de novo heterozygous missense variant in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39876536
DOI: 10.1002/ajmg.a.64006
PMCID: PMC12052494

Genes

PAK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.PMID 39876536Read ↗

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