Robinow syndrome is a genetic disorder involving the skeletal system caused by the frizzled class receptor 2 (FZD2) gene. It can present patients with cleft palates and dwarfism by 18 months of age. Researchers in the USA have conducted a study that has shown the first successful limb length corrections in mouse models with a similar disorder.
The researchers used CRISPR/Cas9 genome-editing technology to induce mutations in the FZD2 regions in mice that caused cleft palates and skeletal malformations like limbs half the size. The pregnant mice were treated with IIIC3a (a Dickkopf-related protein 1 (DKK) inhibitor), and normal limb lengths were observed in the offspring. Implications To research more on the mechanism of FZD2 mutations Use of CRISPR/Cas9 as an investigational tool to understand pathogenesis in genes Use of DKK inhibitors as a potential treatment for skeletal…
