# Recurrent Pneumothorax in PIEZO2‐Related Arthrogryposis: Implications for the Mechanosensory Function of PIEZO2 in the Respiratory System

**Authors:** Daisuke Nakato, Ikumi Ono, Kumiko Misu, Fuyuki Miya, Kenjiro Kosaki

PMC · DOI: 10.1002/cga.70045 · Congenital Anomalies · 2026-02-16

## Full-text entities

- **Genes:** PIEZO2 (piezo type mechanosensitive ion channel component 2) [NCBI Gene 63895] {aka C18orf30, C18orf58, DA3, DA5, DAIPT, FAM38B}
- **Diseases:** thoracic deformity (MESH:D013896), dyspnea (MESH:D004417), cardiopulmonary arrest (MESH:D006323), congenital anomalies (MESH:D000013), Marden-Walker (MESH:C535910), hearing loss (MESH:D034381), contractures of the hands and feet (MESH:D003286), respiratory compromise (MESH:D012131), Pneumothorax (MESH:D011030), distal (MESH:D049310), Lance-Adams syndrome (MESH:D000219), joints (MESH:D007592), scoliosis (MESH:D012600), Distal arthrogryposis (MESH:C535378), PIEZO2 deficiency (MESH:D007153), hypoxic-ischemic encephalopathy (MESH:D020925), Dandy-Walker malformation (MESH:D003616), Arthrogryposis (MESH:D001176), impaired lung expansion (MESH:D009422), PIEZO2 dysfunction (MESH:D006331)
- **Species:** Mus musculus (house mouse, species) [taxon 10090], Homo sapiens (human, species) [taxon 9606]
- **Mutations:** p. Gly2406Arg, c.7216G>A

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## References

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Source: https://tomesphere.com/paper/PMC12910185