Isolated syndactyly is a common limb malformation with limited known genetic etiology. We used exome sequencing to discover a novel heterozygous missense variant c.2915G > C: p.
* The compound HBB2 activates both NRF2 and HSF1 and protects mice from skin cancer caused by UV rays while also inducing autophagy.
* Research shows that NRF2-deficient cells struggle with autophagy activation and have lower levels of key proteins, while HSF1-deficient cells exhibit higher autophagic activity, indicating that NRF2 and HSF1 may have opposing roles in regulating autophagy.