# Before PAX1, DKK1, and D-loop variants are held responsible for the Chiari-I malformation, the pathogenicity of each variant must be proven

**Authors:** Josef Finsterer

PMC · DOI: 10.3325/cmj.2026.67.50 · 2026-02-01

## Full-text entities

- **Genes:** PAX1 (paired box 1) [NCBI Gene 5075] {aka HUP48, OFC2, OTFCS2}, DKK1 (dickkopf Wnt signaling pathway inhibitor 1) [NCBI Gene 22943] {aka DKK-1, SK}
- **Diseases:** Chiari I malformation (MESH:D001139), Mitochondrial diseases (MESH:D028361), multisystemic (MESH:D019578)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** m.16181A>G, c.548-3T>C, c.556 G>A, m.210A>G, m.16145G>A, m.16031C>G

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Source: https://tomesphere.com/paper/PMC13014295